ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) (rs56191579)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086174 SCV000072867 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130525 SCV000185394 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Counsyl RCV000031602 SCV000220301 likely benign Breast-ovarian cancer, familial 2 2014-05-10 criteria provided, single submitter literature only
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000413633 SCV000492497 uncertain significance Neoplasm of the breast criteria provided, single submitter research
GeneDx RCV000421588 SCV000512376 likely benign not specified 2017-10-02 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.
Genetic Services Laboratory,University of Chicago RCV000421588 SCV000593750 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing
Color RCV000130525 SCV000683756 likely benign Hereditary cancer-predisposing syndrome 2015-04-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000044854 SCV001133853 likely benign not provided 2019-07-16 criteria provided, single submitter clinical testing
Mendelics RCV000031602 SCV001139137 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000031602 SCV001270228 benign Breast-ovarian cancer, familial 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001112564 SCV001270229 benign Fanconi anemia, complementation group D1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Integrated Genetics/Laboratory Corporation of America RCV000421588 SCV001361750 benign not specified 2019-06-18 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.6131G>T (p.Gly2044Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 251324 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (4.4e-05 vs 0.00075), allowing no conclusion about variant significance. The variant, c.6131G>T, has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer, predominantly Japanese and Korean ethnicities, along with the variant co-occurring with different pathogenic variants (Silva_2015; Ohmoto_2018; BIC database; internal database), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign.
Sharing Clinical Reports Project (SCRP) RCV000031602 SCV000054209 benign Breast-ovarian cancer, familial 2 2011-03-02 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031602 SCV000146776 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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