ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.2187_2194del (p.Tyr730fs)
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
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NM_000179.3(MSH6):c.2187_2194del (p.Tyr730fs)
Variation ID: 3148673 Accession: VCV003148673.1
- Type and length
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Deletion, 8 bp
- Location
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Cytogenetic: 2p16.3 2: 47800169-47800176 (GRCh38) [ NCBI UCSC ] 2: 48027308-48027315 (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 Jan 10, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000179.3:c.2187_2194del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Tyr730fs frameshift NM_001281492.2:c.1797_1804del NP_001268421.1:p.Tyr600fs frameshift NM_001281493.2:c.1281_1288del NP_001268422.1:p.Tyr428fs frameshift NM_001281494.2:c.1281_1288del NP_001268423.1:p.Tyr428fs frameshift NM_001406795.1:c.2283_2290del NP_001393724.1:p.Tyr762fs frameshift NM_001406796.1:c.2187_2194del NP_001393725.1:p.Tyr730fs frameshift NM_001406797.1:c.1890_1897del NP_001393726.1:p.Tyr631fs frameshift NM_001406798.1:c.2187_2194del NP_001393727.1:p.Tyr730fs frameshift NM_001406799.1:c.1662_1669del NP_001393728.1:p.Tyr555fs frameshift NM_001406800.1:c.2187_2194del NP_001393729.1:p.Tyr730fs frameshift NM_001406801.1:c.1890_1897del NP_001393730.1:p.Tyr631fs frameshift NM_001406802.1:c.2283_2290del NP_001393731.1:p.Tyr762fs frameshift NM_001406803.1:c.2187_2194del NP_001393732.1:p.Tyr730fs frameshift NM_001406804.1:c.2109_2116del NP_001393733.1:p.Tyr704fs frameshift NM_001406805.1:c.1890_1897del NP_001393734.1:p.Tyr631fs frameshift NM_001406806.1:c.1662_1669del NP_001393735.1:p.Tyr555fs frameshift NM_001406807.1:c.1662_1669del NP_001393736.1:p.Tyr555fs frameshift NM_001406808.1:c.2187_2194del NP_001393737.1:p.Tyr730fs frameshift NM_001406809.1:c.2187_2194del NP_001393738.1:p.Tyr730fs frameshift NM_001406811.1:c.1281_1288del NP_001393740.1:p.Tyr428fs frameshift NM_001406812.1:c.1281_1288del NP_001393741.1:p.Tyr428fs frameshift NM_001406813.1:c.2193_2200del NP_001393742.1:p.Tyr732fs frameshift NM_001406814.1:c.1281_1288del NP_001393743.1:p.Tyr428fs frameshift NM_001406815.1:c.1281_1288del NP_001393744.1:p.Tyr428fs frameshift NM_001406816.1:c.1281_1288del NP_001393745.1:p.Tyr428fs frameshift NM_001406817.1:c.1606+581_1606+588del intron variant NM_001406818.1:c.1890_1897del NP_001393747.1:p.Tyr631fs frameshift NM_001406819.1:c.1890_1897del NP_001393748.1:p.Tyr631fs frameshift NM_001406820.1:c.1890_1897del NP_001393749.1:p.Tyr631fs frameshift NM_001406821.1:c.1890_1897del NP_001393750.1:p.Tyr631fs frameshift NM_001406822.1:c.1890_1897del NP_001393751.1:p.Tyr631fs frameshift NM_001406823.1:c.1281_1288del NP_001393752.1:p.Tyr428fs frameshift NM_001406824.1:c.1890_1897del NP_001393753.1:p.Tyr631fs frameshift NM_001406825.1:c.1890_1897del NP_001393754.1:p.Tyr631fs frameshift NM_001406826.1:c.2019_2026del NP_001393755.1:p.Tyr674fs frameshift NM_001406827.1:c.1890_1897del NP_001393756.1:p.Tyr631fs frameshift NM_001406828.1:c.1890_1897del NP_001393757.1:p.Tyr631fs frameshift NM_001406829.1:c.1281_1288del NP_001393758.1:p.Tyr428fs frameshift NM_001406830.1:c.1890_1897del NP_001393759.1:p.Tyr631fs frameshift NM_001407362.1:c.628-496_628-489del intron variant NR_176256.1:n.1049_1056del non-coding transcript variant NR_176257.1:n.2276_2283del non-coding transcript variant NR_176258.1:n.2276_2283del non-coding transcript variant NR_176259.1:n.2276_2283del non-coding transcript variant NR_176261.1:n.2276_2283del non-coding transcript variant NC_000002.12:g.47800170_47800177del NC_000002.11:g.48027309_48027316del NG_007111.1:g.22024_22031del LRG_219:g.22024_22031del LRG_219t1:c.2187_2194del LRG_219p1:p.Tyr730Asnfs - Protein change
- Y704fs, Y730fs, Y631fs, Y555fs, Y674fs, Y732fs, Y428fs, Y600fs, Y762fs
- Other names
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- Canonical SPDI
- NC_000002.12:47800168:CCTATCAAC:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- 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
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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. |
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MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9037 | 9343 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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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
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Jan 10, 2024 | RCV004442567.1 |
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
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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
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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
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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
(Jan 10, 2024)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 5
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004930868.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
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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.