ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1185G>A (p.Trp395Ter) (rs886039315)

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Total submissions: 2
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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) RCV000661416 SCV000783692 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000255306 SCV000321450 pathogenic not provided 2015-11-16 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.1185G>A at the cDNA level and p.Trp395Ter (W395X) at the protein level. Using alternate nomenclature, This variant would be defined as BRCA2 1413G>A. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TGA), 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, the adjacent mutation BRCA2 c.1184G>A, which also results in a premature stop codon at this residue (p.Trp395Ter), has been reported in an individual with a personal and/or family history of breast and/or ovarian cancer (Castera 2014). Based on the currently available information, we consider BRCA2 Trp395Ter to be a pathogenic variant.

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