ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6541G>C (p.Gly2181Arg) (rs371067421)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205463 SCV000260223 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000420330 SCV000520067 likely benign not specified 2017-08-17 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586226 SCV000600711 uncertain significance not provided 2019-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567616 SCV000661404 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-15 criteria provided, single submitter clinical testing The p.G2181R variant (also known as c.6541G>C), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 6541. The glycine at codon 2181 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000420330 SCV000694979 uncertain significance not specified 2019-10-07 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.6541G>C (p.Gly2181Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 244056 control chromosomes (gnomAD). 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.6541G>C in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Six ClinVar submissions (evaluation after 2014) cites the variant twice as likely benign and four times as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics,PreventionGenetics RCV000586226 SCV000805747 uncertain significance not provided 2017-07-06 criteria provided, single submitter clinical testing
Color Health, Inc RCV000567616 SCV000911403 likely benign Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031633 SCV000054240 likely benign Breast-ovarian cancer, familial 2 2012-05-21 no assertion criteria provided clinical testing

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