ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3401delG (p.Ser1134Thrfs) (rs1555283219)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576578 SCV000677880 likely pathogenic Breast-ovarian cancer, familial 2 2017-02-14 criteria provided, single submitter clinical testing
GeneDx RCV000657277 SCV000779008 pathogenic not provided 2016-12-15 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.3401delG at the cDNA level and p.Ser1134ThrfsX16 (S1134TfsX16) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 3629delG. The normal sequence, with the base that is deleted in brackets, is CCAA[delG]CTAC. The deletion causes a frameshift which changes a Serine to a Threonine at codon 1134, and creates a premature stop codon at position 16 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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