ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4412del (p.Gly1471fs) (rs1064793951)

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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) RCV000661039 SCV000783284 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 RCV000482602 SCV000567437 pathogenic not provided 2015-07-22 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.4412delG at the cDNA level and p.Gly1471AlafsX34 (G1471AfsX34) at the protein level. The deletion creates a frame shift, which changes a Glycine to an Alanine at codon 1471, and introduces a premature stop codon at position 34 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Using alternate nomenclature, this variant would be defined as BRCA1 4531delG. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

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