ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9094A>G (p.Lys3032Glu) (rs1555288501)

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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 RCV000587796 SCV000695206 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The c.9094A>G (p.Lys3032Glu) in BRCA2 gene is a missense variant involves a conserved nucleotide and 3/4 in silico tools predict damaging outcome. The variant is absent from the control population datasets of ExAC and gnomAD. To our knowledge, the variant has not been reported in affected individuals via published reports or was cited by reputable databases/clinical laboratories. This variant occurred in cis with BRCA2 c.9097delA (known DV). Taken together, the variant was classified as VUS-Possibly Benign, until new information becomes available.

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