ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8687G>A (p.Arg2896His) (rs80359128)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129089 SCV000183797 likely benign Hereditary cancer-predisposing syndrome 2017-12-29 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034466 SCV000043232 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000077448 SCV000147439 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000129089 SCV000902894 benign Hereditary cancer-predisposing syndrome 2016-11-21 criteria provided, single submitter clinical testing
Counsyl RCV000077448 SCV000488098 uncertain significance Breast-ovarian cancer, familial 2 2015-12-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000418186 SCV000592222 likely benign not specified 2012-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000418186 SCV000516569 likely benign not specified 2017-08-10 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 RCV000034466 SCV000695173 uncertain significance not provided 2016-04-05 criteria provided, single submitter clinical testing Variant Summary: This variant involves a non-conserved nucleotide and 3/4 in silico tools predict this variant as benign/neutral in its effect (SNP&GO not captured due to low reliability index). The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.002% which does not exceed the maximal expected allele frequency for a pathogenic variant in BRCA2 (0.075%). Multiple clinical laboratories classified this variant as benign/likely benign. There is one report of a functional assay whgich showed "competent HDR" activity of protein with this variant which is comparable to wild-type protein and the authors classified this variant as "neutral" (Karchin _2007). Taken all together, this variant was classified as Variant with Unknown Significance-Possibly Benign Variant.
Invitae RCV000045602 SCV000073615 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077448 SCV000109246 benign Breast-ovarian cancer, familial 2 2010-12-08 no assertion criteria provided clinical testing

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