ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8931T>G (p.Tyr2977Ter) (rs886040801)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657678 SCV000779427 pathogenic not provided 2018-03-05 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8931T>G at the cDNA level and p.Tyr2977Ter (Y2977X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

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