ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) (rs80359069)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129733 SCV000184538 likely benign Hereditary cancer-predisposing syndrome 2017-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077431 SCV000147300 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000129733 SCV000902886 likely benign Hereditary cancer-predisposing syndrome 2015-07-23 criteria provided, single submitter clinical testing
Counsyl RCV000077431 SCV000785552 uncertain significance Breast-ovarian cancer, familial 2 2017-09-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077431 SCV000744538 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000214196 SCV000592179 uncertain significance not specified 2016-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000214196 SCV000278879 likely benign not specified 2018-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000045453 SCV000494391 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-06 criteria provided, single submitter clinical testing Variant Summary: c.8215G>A is a missense mutation that occurs at a non-conserved position. 4/4 in silico tools predict a neutral outcome, and this prediction is supported by an in vitro homology-directed repair assay that showed slightly reduced homologous recombination, but comparable to WT activity. The variant has been cited mainly in Asians in both patients and controls (0.02% in East Asians in ExAC). Most reputable sources, including SCRP, BIC, kConFab, and UMD classify the variant as a VUS, however Ambry Genetics classifies the variant as likely benign. Taken together, the variant has been classified as a variant of uncertain significance until more information is available.
Invitae RCV000045453 SCV000073466 benign Hereditary breast and ovarian cancer syndrome 2017-12-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000214196 SCV000600791 likely benign not specified 2017-05-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077431 SCV000109229 uncertain significance Breast-ovarian cancer, familial 2 2012-01-13 no assertion criteria provided clinical testing

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