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NM_000059.3(BRCA2):c.8933C>G (p.Ser2978Ter)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: Sep 13, 2016)
Last evaluated:
Sep 8, 2016
Accession:
VCV000091737.1
Variation ID:
91737
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.8933C>G (p.Ser2978Ter)

Allele ID
97214
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32379495 (GRCh38) GRCh38 UCSC
13: 32953632 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32953632C>G
NC_000013.11:g.32379495C>G
NM_000059.3:c.8933C>G NP_000050.2:p.Ser2978Ter nonsense
... more HGVS
Protein change
S2978*
Other names
9161C>G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA025878
dbSNP: rs80359144
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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 RCV000077645.3
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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
11030 11116

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: SCV000301320.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(May 29, 2008)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000109448.2
Submitted: (Jun 26, 2013)
Evidence details

Citations for this variant

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

Record last updated Jan 16, 2020