ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1440C>A (p.Cys480Ter) (rs1555281911)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522902 SCV000621817 pathogenic not provided 2018-06-07 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1440C>A at the cDNA level and p.Cys480Ter (C480X) at the proteinlevel. Using alternate nomenclature, this variant would be defined as BRCA2 1668C>A. The substitution creates anonsense variant, which changes a Cysteine to a premature stop codon (TGC>TGA), and is predicted to cause loss ofnormal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant hasnot, to our knowledge, been reported in the literature, it is considered pathogenic

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