ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2612C>G (p.Ser871Ter) (rs397507634)

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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) RCV000241282 SCV000300538 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000167495 SCV000218353 pathogenic Hereditary cancer-predisposing syndrome 2016-07-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000255430 SCV000322181 pathogenic not provided 2016-06-17 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.2612C>G at the cDNA level and p.Ser871Ter (S871X) 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. This variant has been reported in at least one individual with breast cancer and is considered pathogenic (Kwong 2016).

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