ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7459_7484del (p.Asn2486_Ala2487insTer) (rs1064795884)

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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) RCV000661701 SCV000784005 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 RCV000481992 SCV000572106 pathogenic not provided 2016-10-21 criteria provided, single submitter clinical testing This deletion of 26 nucleotides is denoted BRCA2 c.7459_7484del26 at the cDNA level and p.Ala2487Ter (A2487X) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAAT[del26]TAAG. The deletion creates a nonsense variant, which changes an Alanine 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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