ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.267_268del (p.Leu90fs) (rs1064795043)

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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) RCV000661596 SCV000783893 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000485253 SCV000570458 pathogenic not provided 2016-06-06 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.267_268delGC at the cDNA level and p.Leu90ValfsX10 (L90VfsX10) at the protein level. Using alternate nomenclature, this variant is also known as BRCA2 495delGC. The normal sequence, with the bases that are deleted in braces, is TGCC[GC]TGTA. The deletion causes a frameshift which changes a Leucine to a Valine at codon 90, and creates a premature stop codon at position 10 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 it to be pathogenic.

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