ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4137del (p.Glu1380fs) (rs1064793746)

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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) RCV000660998 SCV000783238 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 RCV000485184 SCV000566923 pathogenic not provided 2015-06-12 criteria provided, single submitter clinical testing This deletion of one nucleotide is denoted BRCA1 c.4137delT at the cDNA level and p.Glu1380KfsX13Ter (E1380KfsX13) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 4256delT. The normal sequence, with the base that is deleted in braces, is TCTC[T]GAAG. The deletion creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon. Although this variant has not been previously reported to our knowledge, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay, and is considered pathogenic.

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