ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3173A>G (p.Lys1058Arg) (rs431825302)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724725 SCV000225162 uncertain significance not provided 2015-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000724725 SCV000518279 likely benign not provided 2020-08-19 criteria provided, single submitter clinical testing
Invitae RCV001084692 SCV000549786 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565270 SCV000661206 likely benign Hereditary cancer-predisposing syndrome 2018-07-10 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000173966 SCV000694663 uncertain significance not specified 2020-10-12 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3173A>G (p.Lys1058Arg) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 246978 control chromosomes, predominantly at a frequency of 0.00021 within the Latino subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3173A>G has been reported in the literature in an individual affected with Breast Cancer (Diaz-Zabala_2018). This report however, does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven other ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=3) or likely benign (n=4). Based on the evidence outlined above, the variant was classified as uncertain significance.
Counsyl RCV000082907 SCV000785778 uncertain significance Breast-ovarian cancer, familial 2 2017-11-27 criteria provided, single submitter clinical testing
Color Health, Inc RCV000565270 SCV000906058 likely benign Hereditary cancer-predisposing syndrome 2018-10-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724725 SCV001133743 uncertain significance not provided 2019-12-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082907 SCV000114981 benign Breast-ovarian cancer, familial 2 2012-05-03 no assertion criteria provided clinical testing

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