ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-1669del (rs397509014)

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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) RCV000661205 SCV000783463 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 RCV000482642 SCV000565897 pathogenic not provided 2015-03-09 criteria provided, single submitter clinical testing The c.2830delT deletion causes a frameshift, which changes a Cysteine to a Valine at codon 944 in exon 10,and creates a premature stop codon at position 56 of the new reading frame. This variant is predicted to cause lossof normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.2830delThas been reported in at least one breast/ovarian patient of Korean descent (Kim 2012). We consider this variant tobe pathogenic.

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