ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.125_132dup (p.Glu45fs) (rs483353112)

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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) RCV000661431 SCV000783708 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 RCV000478452 SCV000572388 pathogenic not provided 2019-01-21 criteria provided, single submitter clinical testing This duplication of eight nucleotides in BRCA2 is denoted c.125_132dupATAATTCT at the cDNA level and p.Glu45IlefsX38 (E45IfsX38) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 353_360dupATAATTCT. The normal sequence, with the bases that are duplicated in brackets, is CCCT[dupATAATTCT]GAAC. The duplication causes a frameshift which changes a Glutamic Acid to an Isoleucine at codon 45, and creates a premature stop codon at position 38 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 this variant to be pathogenic.

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