ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3715A>G (p.Lys1239Glu) (rs374191973)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160068 SCV000210321 likely benign not specified 2017-07-21 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.
Invitae RCV000537690 SCV000635301 likely benign Hereditary breast and ovarian cancer syndrome 2019-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575098 SCV000665037 likely benign Hereditary cancer-predisposing syndrome 2019-09-16 criteria provided, single submitter clinical testing Other data supporting benign classification;In silico models in agreement (benign)
Color RCV000575098 SCV000683576 likely benign Hereditary cancer-predisposing syndrome 2017-03-23 criteria provided, single submitter clinical testing
Mendelics RCV000144184 SCV001139070 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000160068 SCV001338198 likely benign not specified 2020-02-28 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3715A>G (p.Lys1239Glu) 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 8e-06 in 249020 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3715A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign, n=4; VUS, n=1). Based on the evidence outlined above, and in consideration of the prevailing consensus, the variant was classified as likely benign.
Sharing Clinical Reports Project (SCRP) RCV000144184 SCV000189257 benign Breast-ovarian cancer, familial 2 2012-05-29 no assertion criteria provided clinical testing

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