ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) (rs80358932)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167842 SCV000073143 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131678 SCV000186714 likely benign Hereditary cancer-predisposing syndrome 2018-08-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification;No disease association in small case-control study
GeneDx RCV000120352 SCV000210642 likely benign not specified 2017-10-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000343881 SCV000383756 likely benign Fanconi anemia, complementation group D1 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000031663 SCV000383757 likely benign Breast-ovarian cancer, familial 2 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120352 SCV000592095 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120352 SCV000602839 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587020 SCV000695031 benign not provided 2016-03-21 criteria provided, single submitter clinical testing Variant Summary: The BRCA2 variant of interest causes a missense change involving a non-conserved nucleotide with 2/4 in silico programs predicting a "benign" outcome (SNPs&Go not captured here due to low reliability index), although these predictions have yet to be functionally assessed. The variant of interest was observed in a large, broad control population, ExAC with an allele frequency of 16/120976 (1/7561), predominantly in the East Asian cohort, 15/8648 (1/577), which significantly exceeds the maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333, therefore suggesting the variant of interest is a common polymorphism found in population(s) of East Asian origin. The variant of interest has been reported in affected individuals via publicatins, predominantly in those of Asian decent, although limited information is provided (i.e. lack of co-occurrence and co-segregation information being provided). The variant of interest has been reported by multiple reputable databases/clinical laboratories as "likely benign/benign." Additionally, the BIC database reports one individual with a pathogenic BRCA2 co-occurrence, c.1103C>A (p.Ser368Ter). Therefore, taking all lines of evidence into consideration, the variant of interest is classified as benign.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000031663 SCV000743328 likely benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031663 SCV000744508 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587020 SCV000889124 benign not provided 2019-05-17 criteria provided, single submitter clinical testing
Color RCV000131678 SCV000910634 benign Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031663 SCV000054270 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
ITMI RCV000120352 SCV000084504 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA2) RCV000031663 SCV000147009 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Pathway Genomics RCV000031663 SCV000189909 likely benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000587020 SCV000778702 likely benign not provided 2017-02-20 no assertion criteria provided clinical testing

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