ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8478C>G (p.Tyr2826Ter)

dbSNP: rs776353983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000257109 SCV000324669 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257109 SCV000327900 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV005054188 SCV005687986 pathogenic not provided 2024-07-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Observed in one family in a report summarizing BRCA2 pathogenic variants identified in European and North American populations, but specific clinical details were not provided (PMID: 29446198); Not observed at significant frequency in large population cohorts (gnomAD); Also known as 8706C>G; This variant is associated with the following publications: (PMID: 29446198)

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