ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.2021-1426del (rs1064794662)

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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) RCV000661148 SCV000783400 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 RCV000484335 SCV000569679 pathogenic not provided 2016-03-21 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.5398delC at the cDNA level and p.Gly1801AlafsX33 (G1801AfsX33) at the protein level. The normal sequence, with the base that is deleted in braces, is CACC[C]TTGG. The deletion causes a frameshift which changes a Glycine to an Alanine at codon 1801, and creates a premature stop codon at position 33 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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