ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9117+16T>G (rs780689895)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586781 SCV000695214 uncertain significance not provided 2016-03-14 criteria provided, single submitter clinical testing Variant summary: Variant affects a non-conserved nucleotide located in an intronic region. 4/5 in silico tools via Alamut predict the variant to create a splice donor site while mutation taster predicts the variant to be neutral. It was found in the large and broad cohorts of the ExAC project at an allele frequency of 0.00086% which does not exceed the maximal expected allele frequency of a disease causing BRCA2 variant (0.075%) to exclude pathogenicity. The variant has not, to our knowledge, been reported in affected individuals via publications and nor evaluated for functional impact by in vivo/vitro studies. Due to the absence of clinical data, and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until more information becomes available.
Invitae RCV000551409 SCV000635718 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-05 criteria provided, single submitter clinical testing

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