ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.818C>G (p.Ser273Ter) (rs80359068)

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Total submissions: 4
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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) RCV000112854 SCV000300365 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 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 RCV000112854 SCV000327832 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657761 SCV000779514 pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.818C>G at the cDNA level and p.Ser273Ter (S273X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. While this specific variant has not been reported in the literature in association with BRCA2-related cancers, a similar variant resulting the same premature stop, BRCA2 c.818C>A (p.Ser273Ter), has been identified in at least one breast and/or ovarian cancer family (Meyer 2003). BRCA2 Ser273Ter is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112854 SCV000145772 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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