ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.15del (p.Glu7fs) (rs1064795072)

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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) RCV000661853 SCV000784178 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 RCV000478121 SCV000570516 pathogenic not provided 2016-05-31 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.15delC at the cDNA level and p.Glu7ArgfsX18 (E7RfsX18) at the protein level. The normal sequence, with the base that is deleted in braces, is GATC[C]AAAG. The deletion causes a frameshift which changes a Glutamic Acid to an Arginine at codon 7, and creates a premature stop codon at position 18 of the new reading frame. Using alternate nomenclature, this variant would be defined as BRCA2 243delC. 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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