ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3205_3206insTAATTGCAGTCAATTAATA (p.Ser1069delinsLeuIleAlaValAsnTer) (rs1064795469)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481346 SCV000571304 pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing This insertion of 19 nucleotides in BRCA2 is denoted c.3205_3206ins19 at the cDNA level and p.Ser1069LeufsX6 (S1069LfsX6) at the protein level. The surrounding sequence is GTAT[ins19]CTGC. The insertion causes a frameshift which changes a Serine to a Leucine at codon 1069, and creates a premature stop codon at position 6 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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