ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6131G>C (p.Gly2044Ala) (rs56191579)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000586884 SCV000072866 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000166682 SCV000217490 benign Hereditary cancer-predisposing syndrome 2015-08-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768600 SCV000324853 uncertain significance Breast and/or ovarian cancer 2015-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000431388 SCV000512377 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000431388 SCV000592031 uncertain significance not specified 2013-01-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000431388 SCV000600680 uncertain significance not specified 2017-07-12 criteria provided, single submitter clinical testing
Color RCV000166682 SCV000683755 likely benign Hereditary cancer-predisposing syndrome 2017-05-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000431388 SCV000694942 likely benign not specified 2019-06-17 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.6131G>C (p.Gly2044Ala) results in a non-conservative amino acid change in the encoded protein sequence. 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 2.4e-05 in 251134 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.6131G>C has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer. These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer (Diez_2003, Martinez-Ferrandis_2003, Palomba_2009, Jalkh_2012). Co-occurrences with other pathogenic variant(s) have been reported (BRCA2 c.5984dup, p.Asn1995LysfsX8; BRCA2 c.6208C>T, p.Q1994X), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant four times as likely benign/benign and twice as uncertain significance. Based on the evidence outlined above, the variant was classified as likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586884 SCV000887865 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031601 SCV000054208 benign Breast-ovarian cancer, familial 2 2010-04-22 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031601 SCV000146775 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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