ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+490del (rs1064795775)

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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) RCV000660934 SCV000783172 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000480796 SCV000571905 pathogenic not provided 2017-07-31 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1277delC at the cDNA level and p.Ser426Ter (S426X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Using alternate nomenclature, this variant would be defined as BRCA1 1396delC. This variant has not, to our knowledge, been published in the literature as a germline variant; however, it has been reported as a somatic variant in breast cancer (Winter 2016). This variant is considered pathogenic.

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