ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7629T>A (p.Tyr2543Ter) (rs1064794521)

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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) RCV000661778 SCV000784093 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 RCV000485706 SCV000569359 pathogenic not provided 2016-11-10 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7629T>A at the cDNA level and p.Tyr2543Ter (Y2543X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 7857T>A. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAA), 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000485706 SCV000600762 pathogenic not provided 2017-06-19 criteria provided, single submitter clinical testing

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