ClinVar Genomic variation as it relates to human health
NM_000038.6(APC):c.4786del (p.Gln1596fs)
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_000038.6(APC):c.4786del (p.Gln1596fs)
Variation ID: 1801350 Accession: VCV001801350.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 5q22.2 5: 112840378 (GRCh38) [ NCBI UCSC ] 5: 112176075 (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 Dec 3, 2022 Dec 2, 2023 Oct 23, 2020 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000038.6:c.4786del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000029.2:p.Gln1596fs frameshift NM_000038.6:c.4786delC MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
frameshift NM_001127510.3:c.4786del NP_001120982.1:p.Gln1596fs frameshift NM_001127511.3:c.4732del NP_001120983.2:p.Gln1578fs frameshift NM_001354895.2:c.4786del NP_001341824.1:p.Gln1596fs frameshift NM_001354896.2:c.4840del NP_001341825.1:p.Gln1614fs frameshift NM_001354897.2:c.4816del NP_001341826.1:p.Gln1606fs frameshift NM_001354898.2:c.4711del NP_001341827.1:p.Gln1571fs frameshift NM_001354899.2:c.4702del NP_001341828.1:p.Gln1568fs frameshift NM_001354900.2:c.4663del NP_001341829.1:p.Gln1555fs frameshift NM_001354901.2:c.4609del NP_001341830.1:p.Gln1537fs frameshift NM_001354902.2:c.4513del NP_001341831.1:p.Gln1505fs frameshift NM_001354903.2:c.4483del NP_001341832.1:p.Gln1495fs frameshift NM_001354904.2:c.4408del NP_001341833.1:p.Gln1470fs frameshift NM_001354905.2:c.4306del NP_001341834.1:p.Gln1436fs frameshift NM_001354906.2:c.3937del NP_001341835.1:p.Gln1313fs frameshift NM_001407446.1:c.4870delC NP_001394375.1:p.Gln1624Argfs frameshift NM_001407447.1:c.4840delC NP_001394376.1:p.Gln1614Argfs frameshift NM_001407448.1:c.4840delC NP_001394377.1:p.Gln1614Argfs frameshift NM_001407449.1:c.4840delC NP_001394378.1:p.Gln1614Argfs frameshift NM_001407450.1:c.4786delC NP_001394379.1:p.Gln1596Argfs frameshift NM_001407451.1:c.4765delC NP_001394380.1:p.Gln1589Argfs frameshift NM_001407452.1:c.4756delC NP_001394381.1:p.Gln1586Argfs frameshift NM_001407453.1:c.4609delC NP_001394382.1:p.Gln1537Argfs frameshift NM_001407454.1:c.4537delC NP_001394383.1:p.Gln1513Argfs frameshift NM_001407455.1:c.4537delC NP_001394384.1:p.Gln1513Argfs frameshift NM_001407456.1:c.4537delC NP_001394385.1:p.Gln1513Argfs frameshift NM_001407457.1:c.4537delC NP_001394386.1:p.Gln1513Argfs frameshift NM_001407458.1:c.4483delC NP_001394387.1:p.Gln1495Argfs frameshift NM_001407459.1:c.4483delC NP_001394388.1:p.Gln1495Argfs frameshift NM_001407460.1:c.4483delC NP_001394389.1:p.Gln1495Argfs frameshift NM_001407467.1:c.4399delC NP_001394396.1:p.Gln1467Argfs frameshift NM_001407469.1:c.4399delC NP_001394398.1:p.Gln1467Argfs frameshift NM_001407470.1:c.3937delC NP_001394399.1:p.Gln1313Argfs frameshift NM_001407471.1:c.3634delC NP_001394400.1:p.Gln1212Argfs frameshift NM_001407472.1:c.3634delC NP_001394401.1:p.Gln1212Argfs frameshift NR_176365.1:n.4621delC NR_176366.1:n.5040delC NC_000005.10:g.112840380del NC_000005.9:g.112176077del NG_008481.4:g.152860del LRG_130:g.152860del LRG_130t1:c.4786del LRG_130p1:p.Gln1596Argfs LRG_130t2:c.4786del LRG_130p2:p.Gln1596Argfs LRG_130t3:c.4786del LRG_130p3:p.Gln1596Argfs - Protein change
- Q1313fs, Q1436fs, Q1470fs, Q1495fs, Q1505fs, Q1537fs, Q1555fs, Q1568fs, Q1571fs, Q1578fs, Q1596fs, Q1606fs, Q1614fs
- Other names
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- Canonical SPDI
- NC_000005.10:112840377:CCC:CC
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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
Help
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
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. |
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APC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
14585 | 14719 |
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
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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/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Oct 23, 2020 | RCV002463411.2 |
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
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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
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 1
Affected status: unknown
Allele origin:
germline
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Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
Accession: SCV002757840.1
First in ClinVar: Dec 03, 2022 Last updated: Dec 03, 2022 |
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Likely pathogenic
(-)
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criteria provided, single submitter
Method: not provided
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Familial adenomatous polyposis 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics, University Hospital of Duesseldorf
Accession: SCV004171147.1
First in ClinVar: Dec 02, 2023 Last updated: Dec 02, 2023 |
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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 Dec 02, 2023
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.