ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1794_1797dup (p.Tyr600fs)

dbSNP: rs1593893879
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008873 SCV001168679 pathogenic not provided 2019-02-20 criteria provided, single submitter clinical testing This duplication of four nucleotides in BRCA2 is denoted c.1794_1797dupATCT at the cDNA level and p.Tyr600IlefsX3 (Y600IfsX3) at the protein level. Using alternate nomenclature, this variant would also be defined as BRCA2 2022_2025dupATCT. The normal sequence, with the bases that are duplicated in brackets, is AAAC[dupATCT]TATA. The duplication causes a frameshift which changes a Tyrosine to an Isoleucine at codon 600, and creates a premature stop codon at position 3 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature as a germline variant, 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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