ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7976+12G>A (rs81002827)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000045362 SCV000602824 benign not specified 2016-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129688 SCV000184489 likely benign Hereditary cancer-predisposing syndrome 2013-12-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113847 SCV000147232 uncertain significance Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing
Color RCV000129688 SCV000683923 likely benign Hereditary cancer-predisposing syndrome 2015-09-22 criteria provided, single submitter clinical testing
Counsyl RCV000113847 SCV000487908 uncertain significance Breast-ovarian cancer, familial 2 2015-12-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045362 SCV000592161 likely benign not specified 2012-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000045362 SCV000167405 benign not specified 2014-03-14 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 RCV000293235 SCV000383775 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000195308 SCV000383776 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000195308 SCV000494413 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-12 criteria provided, single submitter clinical testing Variant summary: The variant of interest involves a non-conserved nucleotide located in a region not widely known to affect splicing, which is supported by 4/5 in silico programs via Alamut predicting no significant effect on splicing, although this has yet to be functionally assessed. Mutation Taster predicts the variant to be a "polymorphism." The variant of interest was observed in a large, broad control population, ExAC with an allele frequency of 10/121102 (1/12109), predominantly in the African cohort with an observed allele frequency of 10/10378 (1/1037), which exceeds the maximum expected allele frequency for a pathogenic BRCA2 variant of 1/1333. Therefore, this suggests the variant of interest to be a common polymorphism specific to population(s) of African origin. In addition, multiple reputable clinical laboratories, GeneDx and Ambry Genetics, cite the variant with a classification of "benign/likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as likely benign.
Invitae RCV000195308 SCV000073375 benign Hereditary breast and ovarian cancer syndrome 2017-12-16 criteria provided, single submitter clinical testing

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