ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5344del (p.Gln1782fs) (rs1555284182)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657305 SCV000779036 pathogenic not provided 2017-03-20 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.5344delC at the cDNA level and p.Gln1782LysfsX9 (Q1782KfsX9) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 5572delC. The normal sequence, with the base that is deleted in brackets, is AGAT[delC]AAAAAAAC. The deletion causes a frameshift which changes a Glutamine to a Lysine at codon 1782, and creates a premature stop codon at position 9 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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