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NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
3 (Most recent: Oct 5, 2017)
Last evaluated:
Sep 8, 2016
Accession:
VCV000096772.1
Variation ID:
96772
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter)

Allele ID
102675
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32333385 (GRCh38) GRCh38 UCSC
13: 32907522 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32907522C>G
NC_000013.11:g.32333385C>G
NM_000059.3:c.1907C>G NP_000050.2:p.Ser636Ter nonsense
... more HGVS
Protein change
S636*
Other names
2135C>G
Canonical SPDI
NC_000013.11:32333384:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA013790
dbSNP: rs431825288
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 reviewed by expert panel Sep 8, 2016 RCV000082893.3
Pathogenic 1 criteria provided, single submitter May 10, 2017 RCV000526079.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
14114 14227

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 08, 2016)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 2
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300478.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(May 10, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000635186.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change creates a premature translational stop signal at codon 636 (p.Ser636*) of the BRCA2 gene. It is expected to result in an absent … (more)
Likely pathogenic
(Jan 17, 2013)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000114967.3
Submitted: (Dec 30, 2013)
Evidence details

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs431825288...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 18, 2021