ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6062A>G (p.His2021Arg) (rs780621780)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165232 SCV000215946 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Integrated Genetics/Laboratory Corporation of America RCV000588995 SCV000694932 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6062A>G (p.His2021Arg) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this substitution (SNPs&GO not captured due to low reliability index). This variant is absent in 120670 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. UMD lists the variant in one individual with a co-occurrence with a pathogenic BRCA2 c.4889C>G (p.Ser1630X, classified as pathogenic by LCA) variant suggesting neutrality. One clinical diagnostic laboratory classified this variant as uncertain significance. Taken together, the variant was classified as VUS-possibly benign.
Color RCV000165232 SCV000906126 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-27 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.