ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4086_4088delinsATA (p.Asp1362_Ser1363delinsGluTer)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4086_4088delinsATA (p.Asp1362_Ser1363delinsGluTer)
Variation ID: 3148649 Accession: VCV003148649.1
- Type and length
-
Indel, 3 bp
- Location
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Cytogenetic: 17q21.31 17: 43091443-43091445 (GRCh38) [ NCBI UCSC ] 17: 41243460-41243462 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 1, 2024 May 1, 2024 Dec 13, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4086_4088delinsATA MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407571.1:c.3873_3875delinsATA NP_001394500.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407581.1:c.4086_4088delinsATA NP_001394510.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407582.1:c.4086_4088delinsATA NP_001394511.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407583.1:c.4086_4088delinsATA NP_001394512.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407585.1:c.4086_4088delinsATA NP_001394514.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407587.1:c.4083_4085delinsATA NP_001394516.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407590.1:c.4083_4085delinsATA NP_001394519.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407591.1:c.4083_4085delinsATA NP_001394520.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407593.1:c.4086_4088delinsATA NP_001394522.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407594.1:c.4086_4088delinsATA NP_001394523.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407596.1:c.4086_4088delinsATA NP_001394525.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407597.1:c.4086_4088delinsATA NP_001394526.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407598.1:c.4086_4088delinsATA NP_001394527.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407602.1:c.4086_4088delinsATA NP_001394531.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407603.1:c.4086_4088delinsATA NP_001394532.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407605.1:c.4086_4088delinsATA NP_001394534.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407610.1:c.4083_4085delinsATA NP_001394539.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407611.1:c.4083_4085delinsATA NP_001394540.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407612.1:c.4083_4085delinsATA NP_001394541.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407613.1:c.4083_4085delinsATA NP_001394542.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407614.1:c.4083_4085delinsATA NP_001394543.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407615.1:c.4083_4085delinsATA NP_001394544.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407616.1:c.4086_4088delinsATA NP_001394545.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407617.1:c.4086_4088delinsATA NP_001394546.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407618.1:c.4086_4088delinsATA NP_001394547.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407619.1:c.4086_4088delinsATA NP_001394548.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407620.1:c.4086_4088delinsATA NP_001394549.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407621.1:c.4086_4088delinsATA NP_001394550.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407622.1:c.4086_4088delinsATA NP_001394551.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407623.1:c.4086_4088delinsATA NP_001394552.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407624.1:c.4086_4088delinsATA NP_001394553.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407625.1:c.4086_4088delinsATA NP_001394554.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407626.1:c.4086_4088delinsATA NP_001394555.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407627.1:c.4083_4085delinsATA NP_001394556.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407628.1:c.4083_4085delinsATA NP_001394557.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407629.1:c.4083_4085delinsATA NP_001394558.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407630.1:c.4083_4085delinsATA NP_001394559.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407631.1:c.4083_4085delinsATA NP_001394560.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407632.1:c.4083_4085delinsATA NP_001394561.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407633.1:c.4083_4085delinsATA NP_001394562.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407634.1:c.4083_4085delinsATA NP_001394563.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407635.1:c.4083_4085delinsATA NP_001394564.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407636.1:c.4083_4085delinsATA NP_001394565.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407637.1:c.4083_4085delinsATA NP_001394566.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407638.1:c.4083_4085delinsATA NP_001394567.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407639.1:c.4086_4088delinsATA NP_001394568.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407640.1:c.4086_4088delinsATA NP_001394569.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407641.1:c.4086_4088delinsATA NP_001394570.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407642.1:c.4086_4088delinsATA NP_001394571.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407644.1:c.4083_4085delinsATA NP_001394573.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407645.1:c.4083_4085delinsATA NP_001394574.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407646.1:c.4077_4079delinsATA NP_001394575.1:p.Asp1359_Ser1360delinsGluTer nonsense NM_001407647.1:c.4077_4079delinsATA NP_001394576.1:p.Asp1359_Ser1360delinsGluTer nonsense NM_001407648.1:c.3963_3965delinsATA NP_001394577.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407649.1:c.3960_3962delinsATA NP_001394578.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407652.1:c.4086_4088delinsATA NP_001394581.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407653.1:c.4008_4010delinsATA NP_001394582.1:p.Asp1336_Ser1337delinsGluTer nonsense NM_001407654.1:c.4008_4010delinsATA NP_001394583.1:p.Asp1336_Ser1337delinsGluTer nonsense NM_001407655.1:c.4008_4010delinsATA NP_001394584.1:p.Asp1336_Ser1337delinsGluTer nonsense NM_001407656.1:c.4008_4010delinsATA NP_001394585.1:p.Asp1336_Ser1337delinsGluTer nonsense NM_001407657.1:c.4008_4010delinsATA NP_001394586.1:p.Asp1336_Ser1337delinsGluTer nonsense NM_001407658.1:c.4008_4010delinsATA NP_001394587.1:p.Asp1336_Ser1337delinsGluTer nonsense NM_001407659.1:c.4005_4007delinsATA NP_001394588.1:p.Asp1335_Ser1336delinsGluTer nonsense NM_001407660.1:c.4005_4007delinsATA NP_001394589.1:p.Asp1335_Ser1336delinsGluTer nonsense NM_001407661.1:c.4005_4007delinsATA NP_001394590.1:p.Asp1335_Ser1336delinsGluTer nonsense NM_001407662.1:c.4005_4007delinsATA NP_001394591.1:p.Asp1335_Ser1336delinsGluTer nonsense NM_001407663.1:c.4008_4010delinsATA NP_001394592.1:p.Asp1336_Ser1337delinsGluTer nonsense NM_001407664.1:c.3963_3965delinsATA NP_001394593.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407665.1:c.3963_3965delinsATA NP_001394594.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407666.1:c.3963_3965delinsATA NP_001394595.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407667.1:c.3963_3965delinsATA NP_001394596.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407668.1:c.3963_3965delinsATA NP_001394597.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407669.1:c.3963_3965delinsATA NP_001394598.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407670.1:c.3960_3962delinsATA NP_001394599.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407671.1:c.3960_3962delinsATA NP_001394600.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407672.1:c.3960_3962delinsATA NP_001394601.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407673.1:c.3960_3962delinsATA NP_001394602.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407674.1:c.3963_3965delinsATA NP_001394603.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407675.1:c.3963_3965delinsATA NP_001394604.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407676.1:c.3963_3965delinsATA NP_001394605.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407677.1:c.3963_3965delinsATA NP_001394606.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407678.1:c.3963_3965delinsATA NP_001394607.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407679.1:c.3963_3965delinsATA NP_001394608.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407680.1:c.3963_3965delinsATA NP_001394609.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407681.1:c.3963_3965delinsATA NP_001394610.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407682.1:c.3963_3965delinsATA NP_001394611.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407683.1:c.3963_3965delinsATA NP_001394612.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407684.1:c.4086_4088delinsATA NP_001394613.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407685.1:c.3960_3962delinsATA NP_001394614.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407686.1:c.3960_3962delinsATA NP_001394615.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407687.1:c.3960_3962delinsATA NP_001394616.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407688.1:c.3960_3962delinsATA NP_001394617.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407689.1:c.3960_3962delinsATA NP_001394618.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407690.1:c.3960_3962delinsATA NP_001394619.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407691.1:c.3960_3962delinsATA NP_001394620.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407692.1:c.3945_3947delinsATA NP_001394621.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407694.1:c.3945_3947delinsATA NP_001394623.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407695.1:c.3945_3947delinsATA NP_001394624.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407696.1:c.3945_3947delinsATA NP_001394625.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407697.1:c.3945_3947delinsATA NP_001394626.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407698.1:c.3945_3947delinsATA NP_001394627.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407724.1:c.3945_3947delinsATA NP_001394653.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407725.1:c.3945_3947delinsATA NP_001394654.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407726.1:c.3945_3947delinsATA NP_001394655.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407727.1:c.3945_3947delinsATA NP_001394656.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407728.1:c.3945_3947delinsATA NP_001394657.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407729.1:c.3945_3947delinsATA NP_001394658.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407730.1:c.3945_3947delinsATA NP_001394659.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407731.1:c.3945_3947delinsATA NP_001394660.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407732.1:c.3945_3947delinsATA NP_001394661.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407733.1:c.3945_3947delinsATA NP_001394662.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407734.1:c.3945_3947delinsATA NP_001394663.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407735.1:c.3945_3947delinsATA NP_001394664.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407736.1:c.3945_3947delinsATA NP_001394665.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407737.1:c.3945_3947delinsATA NP_001394666.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407738.1:c.3945_3947delinsATA NP_001394667.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407739.1:c.3945_3947delinsATA NP_001394668.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407740.1:c.3942_3944delinsATA NP_001394669.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407741.1:c.3942_3944delinsATA NP_001394670.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407742.1:c.3942_3944delinsATA NP_001394671.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407743.1:c.3942_3944delinsATA NP_001394672.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407744.1:c.3942_3944delinsATA NP_001394673.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407745.1:c.3942_3944delinsATA NP_001394674.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407746.1:c.3942_3944delinsATA NP_001394675.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407747.1:c.3942_3944delinsATA NP_001394676.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407748.1:c.3942_3944delinsATA NP_001394677.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407749.1:c.3942_3944delinsATA NP_001394678.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407750.1:c.3945_3947delinsATA NP_001394679.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407751.1:c.3945_3947delinsATA NP_001394680.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407752.1:c.3945_3947delinsATA NP_001394681.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407838.1:c.3942_3944delinsATA NP_001394767.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407839.1:c.3942_3944delinsATA NP_001394768.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407841.1:c.3942_3944delinsATA NP_001394770.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407842.1:c.3942_3944delinsATA NP_001394771.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407843.1:c.3942_3944delinsATA NP_001394772.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407844.1:c.3942_3944delinsATA NP_001394773.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407845.1:c.3942_3944delinsATA NP_001394774.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407846.1:c.3942_3944delinsATA NP_001394775.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407847.1:c.3942_3944delinsATA NP_001394776.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407848.1:c.3942_3944delinsATA NP_001394777.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407849.1:c.3942_3944delinsATA NP_001394778.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407850.1:c.3945_3947delinsATA NP_001394779.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407851.1:c.3945_3947delinsATA NP_001394780.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407852.1:c.3945_3947delinsATA NP_001394781.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407853.1:c.3873_3875delinsATA NP_001394782.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407854.1:c.4086_4088delinsATA NP_001394783.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407858.1:c.4086_4088delinsATA NP_001394787.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407859.1:c.4086_4088delinsATA NP_001394788.1:p.Asp1362_Ser1363delinsGluTer nonsense NM_001407860.1:c.4083_4085delinsATA NP_001394789.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407861.1:c.4083_4085delinsATA NP_001394790.1:p.Asp1361_Ser1362delinsGluTer nonsense NM_001407862.1:c.3885_3887delinsATA NP_001394791.1:p.Asp1295_Ser1296delinsGluTer nonsense NM_001407863.1:c.3963_3965delinsATA NP_001394792.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407874.1:c.3882_3884delinsATA NP_001394803.1:p.Asp1294_Ser1295delinsGluTer nonsense NM_001407875.1:c.3882_3884delinsATA NP_001394804.1:p.Asp1294_Ser1295delinsGluTer nonsense NM_001407879.1:c.3876_3878delinsATA NP_001394808.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407881.1:c.3876_3878delinsATA NP_001394810.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407882.1:c.3876_3878delinsATA NP_001394811.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407884.1:c.3876_3878delinsATA NP_001394813.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407885.1:c.3876_3878delinsATA NP_001394814.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407886.1:c.3876_3878delinsATA NP_001394815.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407887.1:c.3876_3878delinsATA NP_001394816.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407889.1:c.3876_3878delinsATA NP_001394818.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407894.1:c.3873_3875delinsATA NP_001394823.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407895.1:c.3873_3875delinsATA NP_001394824.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407896.1:c.3873_3875delinsATA NP_001394825.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407897.1:c.3873_3875delinsATA NP_001394826.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407898.1:c.3873_3875delinsATA NP_001394827.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407899.1:c.3873_3875delinsATA NP_001394828.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407900.1:c.3876_3878delinsATA NP_001394829.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407902.1:c.3876_3878delinsATA NP_001394831.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407904.1:c.3876_3878delinsATA NP_001394833.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407906.1:c.3876_3878delinsATA NP_001394835.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407907.1:c.3876_3878delinsATA NP_001394836.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407908.1:c.3876_3878delinsATA NP_001394837.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407909.1:c.3876_3878delinsATA NP_001394838.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407910.1:c.3876_3878delinsATA NP_001394839.1:p.Asp1292_Ser1293delinsGluTer nonsense NM_001407915.1:c.3873_3875delinsATA NP_001394844.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407916.1:c.3873_3875delinsATA NP_001394845.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407917.1:c.3873_3875delinsATA NP_001394846.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407918.1:c.3873_3875delinsATA NP_001394847.1:p.Asp1291_Ser1292delinsGluTer nonsense NM_001407919.1:c.3963_3965delinsATA NP_001394848.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407920.1:c.3822_3824delinsATA NP_001394849.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407921.1:c.3822_3824delinsATA NP_001394850.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407922.1:c.3822_3824delinsATA NP_001394851.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407923.1:c.3822_3824delinsATA NP_001394852.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407924.1:c.3822_3824delinsATA NP_001394853.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407925.1:c.3822_3824delinsATA NP_001394854.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407926.1:c.3822_3824delinsATA NP_001394855.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407927.1:c.3822_3824delinsATA NP_001394856.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407928.1:c.3822_3824delinsATA NP_001394857.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407929.1:c.3822_3824delinsATA NP_001394858.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407930.1:c.3819_3821delinsATA NP_001394859.1:p.Asp1273_Ser1274delinsGluTer nonsense NM_001407931.1:c.3819_3821delinsATA NP_001394860.1:p.Asp1273_Ser1274delinsGluTer nonsense NM_001407932.1:c.3819_3821delinsATA NP_001394861.1:p.Asp1273_Ser1274delinsGluTer nonsense NM_001407933.1:c.3822_3824delinsATA NP_001394862.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407934.1:c.3819_3821delinsATA NP_001394863.1:p.Asp1273_Ser1274delinsGluTer nonsense NM_001407935.1:c.3822_3824delinsATA NP_001394864.1:p.Asp1274_Ser1275delinsGluTer nonsense NM_001407936.1:c.3819_3821delinsATA NP_001394865.1:p.Asp1273_Ser1274delinsGluTer nonsense NM_001407937.1:c.3963_3965delinsATA NP_001394866.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407938.1:c.3963_3965delinsATA NP_001394867.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407939.1:c.3963_3965delinsATA NP_001394868.1:p.Asp1321_Ser1322delinsGluTer nonsense NM_001407940.1:c.3960_3962delinsATA NP_001394869.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407941.1:c.3960_3962delinsATA NP_001394870.1:p.Asp1320_Ser1321delinsGluTer nonsense NM_001407942.1:c.3945_3947delinsATA NP_001394871.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407943.1:c.3942_3944delinsATA NP_001394872.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407944.1:c.3945_3947delinsATA NP_001394873.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407945.1:c.3945_3947delinsATA NP_001394874.1:p.Asp1315_Ser1316delinsGluTer nonsense NM_001407946.1:c.3753_3755delinsATA NP_001394875.1:p.Asp1251_Ser1252delinsGluTer nonsense NM_001407947.1:c.3753_3755delinsATA NP_001394876.1:p.Asp1251_Ser1252delinsGluTer nonsense NM_001407948.1:c.3753_3755delinsATA NP_001394877.1:p.Asp1251_Ser1252delinsGluTer nonsense NM_001407949.1:c.3753_3755delinsATA NP_001394878.1:p.Asp1251_Ser1252delinsGluTer nonsense NM_001407950.1:c.3753_3755delinsATA NP_001394879.1:p.Asp1251_Ser1252delinsGluTer nonsense NM_001407951.1:c.3753_3755delinsATA NP_001394880.1:p.Asp1251_Ser1252delinsGluTer nonsense NM_001407952.1:c.3753_3755delinsATA NP_001394881.1:p.Asp1251_Ser1252delinsGluTer nonsense NM_001407953.1:c.3753_3755delinsATA NP_001394882.1:p.Asp1251_Ser1252delinsGluTer nonsense NM_001407954.1:c.3750_3752delinsATA NP_001394883.1:p.Asp1250_Ser1251delinsGluTer nonsense NM_001407955.1:c.3750_3752delinsATA NP_001394884.1:p.Asp1250_Ser1251delinsGluTer nonsense NM_001407956.1:c.3750_3752delinsATA NP_001394885.1:p.Asp1250_Ser1251delinsGluTer nonsense NM_001407957.1:c.3753_3755delinsATA NP_001394886.1:p.Asp1251_Ser1252delinsGluTer nonsense NM_001407958.1:c.3750_3752delinsATA NP_001394887.1:p.Asp1250_Ser1251delinsGluTer nonsense NM_001407959.1:c.3705_3707delinsATA NP_001394888.1:p.Asp1235_Ser1236delinsGluTer nonsense NM_001407960.1:c.3705_3707delinsATA NP_001394889.1:p.Asp1235_Ser1236delinsGluTer nonsense NM_001407962.1:c.3702_3704delinsATA NP_001394891.1:p.Asp1234_Ser1235delinsGluTer nonsense NM_001407963.1:c.3705_3707delinsATA NP_001394892.1:p.Asp1235_Ser1236delinsGluTer nonsense NM_001407964.1:c.3942_3944delinsATA NP_001394893.1:p.Asp1314_Ser1315delinsGluTer nonsense NM_001407965.1:c.3582_3584delinsATA NP_001394894.1:p.Asp1194_Ser1195delinsGluTer nonsense NM_001407966.1:c.3198_3200delinsATA NP_001394895.1:p.Asp1066_Ser1067delinsGluTer nonsense NM_001407967.1:c.3198_3200delinsATA NP_001394896.1:p.Asp1066_Ser1067delinsGluTer nonsense NM_001407968.1:c.1482_1484delinsATA NP_001394897.1:p.Asp494_Ser495delinsGluTer nonsense NM_001407969.1:c.1482_1484delinsATA NP_001394898.1:p.Asp494_Ser495delinsGluTer nonsense NM_001407970.1:c.788-413_788-411delinsATA intron variant NM_001407971.1:c.788-413_788-411delinsATA intron variant NM_001407972.1:c.785-413_785-411delinsATA intron variant NM_001407973.1:c.788-413_788-411delinsATA intron variant NM_001407974.1:c.788-413_788-411delinsATA intron variant NM_001407975.1:c.788-413_788-411delinsATA intron variant NM_001407976.1:c.788-413_788-411delinsATA intron variant NM_001407977.1:c.788-413_788-411delinsATA intron variant NM_001407978.1:c.788-413_788-411delinsATA intron variant NM_001407979.1:c.788-413_788-411delinsATA intron variant NM_001407980.1:c.788-413_788-411delinsATA intron variant NM_001407981.1:c.788-413_788-411delinsATA intron variant NM_001407982.1:c.788-413_788-411delinsATA intron variant NM_001407983.1:c.788-413_788-411delinsATA intron variant NM_001407984.1:c.785-413_785-411delinsATA intron variant NM_001407985.1:c.785-413_785-411delinsATA intron variant NM_001407986.1:c.785-413_785-411delinsATA intron variant NM_001407990.1:c.788-413_788-411delinsATA intron variant NM_001407991.1:c.785-413_785-411delinsATA intron variant NM_001407992.1:c.785-413_785-411delinsATA intron variant NM_001407993.1:c.788-413_788-411delinsATA intron variant NM_001408392.1:c.785-413_785-411delinsATA intron variant NM_001408396.1:c.785-413_785-411delinsATA intron variant NM_001408397.1:c.785-413_785-411delinsATA intron variant NM_001408398.1:c.785-413_785-411delinsATA intron variant NM_001408399.1:c.785-413_785-411delinsATA intron variant NM_001408400.1:c.785-413_785-411delinsATA intron variant NM_001408401.1:c.785-413_785-411delinsATA intron variant NM_001408402.1:c.785-413_785-411delinsATA intron variant NM_001408403.1:c.788-413_788-411delinsATA intron variant NM_001408404.1:c.788-413_788-411delinsATA intron variant NM_001408406.1:c.791-422_791-420delinsATA intron variant NM_001408407.1:c.785-413_785-411delinsATA intron variant NM_001408408.1:c.779-413_779-411delinsATA intron variant NM_001408409.1:c.710-413_710-411delinsATA intron variant NM_001408410.1:c.647-413_647-411delinsATA intron variant NM_001408411.1:c.710-413_710-411delinsATA intron variant NM_001408412.1:c.710-413_710-411delinsATA intron variant NM_001408413.1:c.707-413_707-411delinsATA intron variant NM_001408414.1:c.710-413_710-411delinsATA intron variant NM_001408415.1:c.710-413_710-411delinsATA intron variant NM_001408416.1:c.707-413_707-411delinsATA intron variant NM_001408418.1:c.671-413_671-411delinsATA intron variant NM_001408419.1:c.671-413_671-411delinsATA intron variant NM_001408420.1:c.671-413_671-411delinsATA intron variant NM_001408421.1:c.668-413_668-411delinsATA intron variant NM_001408422.1:c.671-413_671-411delinsATA intron variant NM_001408423.1:c.671-413_671-411delinsATA intron variant NM_001408424.1:c.668-413_668-411delinsATA intron variant NM_001408425.1:c.665-413_665-411delinsATA intron variant NM_001408426.1:c.665-413_665-411delinsATA intron variant NM_001408427.1:c.665-413_665-411delinsATA intron variant NM_001408428.1:c.665-413_665-411delinsATA intron variant NM_001408429.1:c.665-413_665-411delinsATA intron variant NM_001408430.1:c.665-413_665-411delinsATA intron variant NM_001408431.1:c.668-413_668-411delinsATA intron variant NM_001408432.1:c.662-413_662-411delinsATA intron variant NM_001408433.1:c.662-413_662-411delinsATA intron variant NM_001408434.1:c.662-413_662-411delinsATA intron variant NM_001408435.1:c.662-413_662-411delinsATA intron variant NM_001408436.1:c.665-413_665-411delinsATA intron variant NM_001408437.1:c.665-413_665-411delinsATA intron variant NM_001408438.1:c.665-413_665-411delinsATA intron variant NM_001408439.1:c.665-413_665-411delinsATA intron variant NM_001408440.1:c.665-413_665-411delinsATA intron variant NM_001408441.1:c.665-413_665-411delinsATA intron variant NM_001408442.1:c.665-413_665-411delinsATA intron variant NM_001408443.1:c.665-413_665-411delinsATA intron variant NM_001408444.1:c.665-413_665-411delinsATA intron variant NM_001408445.1:c.662-413_662-411delinsATA intron variant NM_001408446.1:c.662-413_662-411delinsATA intron variant NM_001408447.1:c.662-413_662-411delinsATA intron variant NM_001408448.1:c.662-413_662-411delinsATA intron variant NM_001408450.1:c.662-413_662-411delinsATA intron variant NM_001408451.1:c.653-413_653-411delinsATA intron variant NM_001408452.1:c.647-413_647-411delinsATA intron variant NM_001408453.1:c.647-413_647-411delinsATA intron variant NM_001408454.1:c.647-413_647-411delinsATA intron variant NM_001408455.1:c.647-413_647-411delinsATA intron variant NM_001408456.1:c.647-413_647-411delinsATA intron variant NM_001408457.1:c.647-413_647-411delinsATA intron variant NM_001408458.1:c.647-413_647-411delinsATA intron variant NM_001408459.1:c.647-413_647-411delinsATA intron variant NM_001408460.1:c.647-413_647-411delinsATA intron variant NM_001408461.1:c.647-413_647-411delinsATA intron variant NM_001408462.1:c.644-413_644-411delinsATA intron variant NM_001408463.1:c.644-413_644-411delinsATA intron variant NM_001408464.1:c.644-413_644-411delinsATA intron variant NM_001408465.1:c.644-413_644-411delinsATA intron variant NM_001408466.1:c.647-413_647-411delinsATA intron variant NM_001408467.1:c.647-413_647-411delinsATA intron variant NM_001408468.1:c.644-413_644-411delinsATA intron variant NM_001408469.1:c.647-413_647-411delinsATA intron variant NM_001408470.1:c.644-413_644-411delinsATA intron variant NM_001408472.1:c.788-413_788-411delinsATA intron variant NM_001408473.1:c.785-413_785-411delinsATA intron variant NM_001408474.1:c.587-413_587-411delinsATA intron variant NM_001408475.1:c.584-413_584-411delinsATA intron variant NM_001408476.1:c.587-413_587-411delinsATA intron variant NM_001408478.1:c.578-413_578-411delinsATA intron variant NM_001408479.1:c.578-413_578-411delinsATA intron variant NM_001408480.1:c.578-413_578-411delinsATA intron variant NM_001408481.1:c.578-413_578-411delinsATA intron variant NM_001408482.1:c.578-413_578-411delinsATA intron variant NM_001408483.1:c.578-413_578-411delinsATA intron variant NM_001408484.1:c.578-413_578-411delinsATA intron variant NM_001408485.1:c.578-413_578-411delinsATA intron variant NM_001408489.1:c.578-413_578-411delinsATA intron variant NM_001408490.1:c.575-413_575-411delinsATA intron variant NM_001408491.1:c.575-413_575-411delinsATA intron variant NM_001408492.1:c.578-413_578-411delinsATA intron variant NM_001408493.1:c.575-413_575-411delinsATA intron variant NM_001408494.1:c.548-413_548-411delinsATA intron variant NM_001408495.1:c.545-413_545-411delinsATA intron variant NM_001408496.1:c.524-413_524-411delinsATA intron variant NM_001408497.1:c.524-413_524-411delinsATA intron variant NM_001408498.1:c.524-413_524-411delinsATA intron variant NM_001408499.1:c.524-413_524-411delinsATA intron variant NM_001408500.1:c.524-413_524-411delinsATA intron variant NM_001408501.1:c.524-413_524-411delinsATA intron variant NM_001408502.1:c.455-413_455-411delinsATA intron variant NM_001408503.1:c.521-413_521-411delinsATA intron variant NM_001408504.1:c.521-413_521-411delinsATA intron variant NM_001408505.1:c.521-413_521-411delinsATA intron variant NM_001408506.1:c.461-413_461-411delinsATA intron variant NM_001408507.1:c.461-413_461-411delinsATA intron variant NM_001408508.1:c.452-413_452-411delinsATA intron variant NM_001408509.1:c.452-413_452-411delinsATA intron variant NM_001408510.1:c.407-413_407-411delinsATA intron variant NM_001408511.1:c.404-413_404-411delinsATA intron variant NM_001408512.1:c.284-413_284-411delinsATA intron variant NM_001408513.1:c.578-413_578-411delinsATA intron variant NM_001408514.1:c.578-413_578-411delinsATA intron variant NM_007297.4:c.3945_3947delinsATA NP_009228.2:p.Asp1315_Ser1316delinsGluTer nonsense NM_007298.4:c.788-413_788-411delinsATA intron variant NM_007299.4:c.788-413_788-411delinsATA intron variant NM_007300.4:c.4086_4088delinsATA NP_009231.2:p.Asp1362_Ser1363delinsGluTer nonsense NR_027676.2:n.4263_4265delTTCinsATA NC_000017.11:g.43091443_43091445delinsTAT NC_000017.10:g.41243460_41243462delinsTAT NG_005905.2:g.126539_126541delinsATA NG_087068.1:g.425_427delinsTAT LRG_292:g.126539_126541delinsATA LRG_292t1:c.4086_4088delTTCinsATA LRG_292p1:p.Asp1362_Ser1363delinsGluTer - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43091442:GAA:TAT
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12881 | 14666 | |
LOC126862571 | - | - | - | GRCh38 | - | 1637 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
|
Dec 13, 2023 | RCV004442543.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Pathogenic
(Dec 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV004930818.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.