ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) (rs80359241)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167844 SCV000073905 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000045892 SCV000210692 likely benign not specified 2017-08-24 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.
Ambry Genetics RCV000166251 SCV000217031 likely benign Hereditary cancer-predisposing syndrome 2018-06-20 criteria provided, single submitter clinical testing Other data supporting benign classification;In silico models in agreement (benign)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587179 SCV000296526 uncertain significance not provided 2019-08-23 criteria provided, single submitter clinical testing
Counsyl RCV000031845 SCV000487774 uncertain significance Breast-ovarian cancer, familial 2 2015-11-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045892 SCV000592305 uncertain significance not specified 2015-02-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000045892 SCV000602772 uncertain significance not specified 2016-08-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045892 SCV000695266 uncertain significance not specified 2019-11-01 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.9728C>T (p.Pro3243Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251118 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.9728C>T has been reported in the literature in at least one individual affected with breast cancer (Carney_2010). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar (evaluation after 2014): five cited the variant as uncertain significance and three cited the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Color RCV000166251 SCV000902988 likely benign Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031845 SCV000054453 benign Breast-ovarian cancer, familial 2 2010-09-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031845 SCV000147704 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735633 SCV000863771 uncertain significance Breast and/or ovarian cancer 2014-11-21 no assertion criteria provided clinical testing

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