ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.517-4C>G (rs81002804)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131488 SCV000186476 likely benign Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Co-occurence with mutation in same gene (phase unknown),In silico models in agreement (benign),Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000113731 SCV000147051 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000131488 SCV000903207 likely benign Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing
Counsyl RCV000113731 SCV000785180 likely benign Breast-ovarian cancer, familial 2 2017-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000212206 SCV000167325 benign not specified 2014-04-07 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.
Integrated Genetics/Laboratory Corporation of America RCV000588182 SCV000694837 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.517-4C>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool (MutationTaster) predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 4/120918 control chromosomes, only observed in the African subpopulation at a frequency of 0.0002915 (3/10290). This frequency is lower than the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). However, this variant may still represent as a rare benign polymorphism found in the populations of African origin. The variant has been reported by BIC in two affected individuals, one known to be without co-occurrence with other deleterious variants in BRCA1/2. In ClinVar while two labs consider it as uncertain significance, one lab classifies it as benign. Taken together, this variant is currently classified as VUS-possibly benign.
Invitae RCV000044590 SCV000072603 benign Hereditary breast and ovarian cancer syndrome 2018-01-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000113731 SCV000296597 uncertain significance Breast-ovarian cancer, familial 2 2016-06-17 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113731 SCV000297535 benign Breast-ovarian cancer, familial 2 2012-09-11 no assertion criteria provided clinical testing

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