ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8091C>A (p.Ser2697Arg) (rs140782158)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586424 SCV000695125 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8091C>A (p.Ser2697Arg) variant involves the alteration of a non-conserved nucleotide, resulting in a missense substitution. The variant lies within the BRCA2 oligonucleotide/oligosaccharide-binding 1 domain and the nucleic acid-binding OB-fold domain (InterPro), and 4/5 in silico tools predict a damaging outcome for this variant. This variant is absent from the large control database ExAC (0/121358 control chromosomes). To our knowledge, the variant of interest has not been reported in affected individuals via publications or reputable databases/clinical diagnostic laboratories, nor has it been evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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