ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6943A>C (p.Ile2315Leu) (rs80358918)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130766 SCV000185659 likely benign Hereditary cancer-predisposing syndrome 2018-04-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification,Does not segregate with disease in family study (genes with incomplete penetrance),No disease association in small case-control study,Structural Evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113675 SCV000146975 uncertain significance Breast-ovarian cancer, familial 2 1999-04-12 no assertion criteria provided clinical testing
Color RCV000130766 SCV000911098 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000212254 SCV000210640 likely benign not specified 2016-05-16 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 RCV000587113 SCV000695011 uncertain significance not provided 2016-12-22 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6943A>C (p.Ile2315Leu) variant involves the alteration of a not conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNP&Go not captured due to low reliability index). This variant was found in 10/116052 control chromosomes at a frequency of 0.0000862, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been reported in multiple affected individuals without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as VUS.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212254 SCV000600725 uncertain significance not specified 2017-05-30 criteria provided, single submitter clinical testing

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