ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9517_9518insTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCT (p.Cys3173delinsPheTer) (rs876661220)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000223206 SCV000279826 pathogenic not provided 2016-01-20 criteria provided, single submitter clinical testing This insertion of 40 nucleotides in BRCA2 is denoted c.9517_9518ins40 at the cDNA level and p.Cys3173PhefsX2 (C3173FfsX2) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 9745_9746ins40. The surrounding sequence is CTTT[ins40]GCAA. The insertion causes a frameshift, which changes a Cysteine to a Phenylalanine at codon 3173, and creates a premature stop codon at position 2 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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