ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3254A>G (p.His1085Arg) (rs80358570)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220389 SCV000276677 likely benign Hereditary cancer-predisposing syndrome 2015-06-22 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077299 SCV000146196 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000220389 SCV000906896 likely benign Hereditary cancer-predisposing syndrome 2018-05-11 criteria provided, single submitter clinical testing
Counsyl RCV000077299 SCV000785527 uncertain significance Breast-ovarian cancer, familial 2 2017-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000432492 SCV000529818 likely benign not specified 2017-12-18 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 RCV000432492 SCV000917042 uncertain significance not specified 2018-10-22 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3254A>G (p.His1085Arg) results in a non-conservative amino acid change located in the BRCA2 repeat region, between the first and second repeat (IPR002093). Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.3e-05 in 262742 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3254A>G has been reported in the literature in an individual affected with Hereditary Breast and Ovarian Cancer (GomezGarcia 2005, Romano 2007). These however, reports do 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. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, thre classifying it as Likely benign, while one calling it a VUS. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000044157 SCV000072170 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077299 SCV000109096 likely benign Breast-ovarian cancer, familial 2 2012-03-01 no assertion criteria provided clinical testing

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