ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4983T>G (p.Tyr1661Ter) (rs1060499833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center RCV000469488 SCV000538188 pathogenic Breast-ovarian cancer, familial 2 criteria provided, single submitter clinical testing This mutation was found in exon11 of BRCA2 gene at chr13:32913475, which involved conversion of c.4983T>G (Tyr1661Ter), generating truncated protein, which can affect the gene repairing function.
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000469488 SCV000784056 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.

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