ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4760C>G (p.Ser1587Ter) (rs397509195)

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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) RCV000238826 SCV000300160 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000236263 SCV000293463 pathogenic not provided 2016-01-08 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4760C>G at the cDNA level and p.Ser1587Ter (S1587X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA) , and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in a triple negative breast cancer patient (Robertson 2012) and is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238826 SCV000296409 pathogenic Breast-ovarian cancer, familial 1 2015-11-13 criteria provided, single submitter clinical testing

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