ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.376C>T (p.Gln126Ter) (rs1085307902)

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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) RCV000661001 SCV000783241 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 RCV000489726 SCV000577640 pathogenic not provided 2015-08-20 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.376C>T at the cDNA level and p.Gln126Ter (Q126X) at the protein level. The substitution, defined as BRCA1 495C>T using alternate nomenclature, creates a nonsense variant which changes a Glutamine to a premature stop codon (CAA>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.
Color RCV000775957 SCV000910463 pathogenic Hereditary cancer-predisposing syndrome 2018-06-11 criteria provided, single submitter clinical testing

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