ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2045del (p.Ile682fs) (rs879254122)

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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) RCV000661874 SCV000784200 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 RCV000235995 SCV000293577 pathogenic not provided 2015-11-16 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.2045delT at the cDNA level and p.Ile682ThrfsX48 (I682TfsX48) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 2273delT. The normal sequence, with the base that is deleted in braces, is GTAA[T]CTCT. The deletion causes a frameshift, which changes an Isoleucine to a Threonine at codon 682, and creates a premature stop codon at position 48 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. Based on the currently available information, we consider this deletion to be pathogenic.

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