ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-973del (rs1064794016)

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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) RCV000661171 SCV000783425 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 RCV000487054 SCV000567593 pathogenic not provided 2015-08-06 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.3526delG at the cDNA level and p.Val1176PhefsX34 (V1176FfsX34) at the protein level. Using alternate nomenclature, this deletion would be defined as BRCA1 3645delG. The normal sequence, with the base that is deleted in braces, is TGCT[G]TTTTTA. The deletion causes a frameshift, which changes a Valine to a Phenylalanine at codon 1176, and creates a premature stop codon at position 34 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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