ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2983A>T (p.Lys995Ter) (rs879255315)

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Total submissions: 4
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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) RCV000661078 SCV000783325 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000238695 SCV000296769 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000238695 SCV000779470 pathogenic not provided 2017-05-24 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2983A>T at the cDNA level and p.Lys995Ter (K995X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAG>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.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496586 SCV000587267 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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