ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8252T>G (p.Ile2751Ser) (rs1555287065)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575791 SCV000666036 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Integrated Genetics/Laboratory Corporation of America RCV000587465 SCV000695137 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing Variant summary: The c.8252T>G (p.Ile2751Ser) in BRCA2 gene is a missense change that involves a highly conserved nucleotide and 5/5 in silico tools predict deleterious outcome. The variant of interest is located a highly conserved OB1 functional domain and neighboring missense mutations were classified as Pathogenic/Likely Pathogenic by several reputable laboratories. The variant is absent from the control population dataset of ExAC and has not, to our knowledge, been reported in affected individuals via published reports or by any reputable databases/clinical laboratories. Taking together, the variant was classified as VUS.

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