ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-1739del (rs1064795769)

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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) RCV000661289 SCV000783555 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 RCV000487180 SCV000571887 pathogenic not provided 2018-03-27 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.2760delA at the cDNA level and p.Gln921ArgfsX79 (Q921RfsX79) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 2879delA. The normal sequence, with the base that is deleted in brackets, is CTGT[delA]CAGA. The deletion causes a frameshift which changes a Glutamine to an Arginine at codon 921, and creates a premature stop codon at position 79 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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