ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.473C>G (p.Ser158Ter) (rs80358701)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566805 SCV000668668 pathogenic Hereditary cancer-predisposing syndrome 2016-06-08 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)
Color RCV000566805 SCV000688889 pathogenic Hereditary cancer-predisposing syndrome 2017-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000657702 SCV000779451 pathogenic not provided 2016-12-06 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.473C>G at the cDNA level and p.Ser158Ter (S158X) 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, also known as BRCA2 701C>G using alternate nomenclature, has been reported in association with hereditary breast cancer (Moran 2016) and is considered pathogenic.

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