ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) (rs55833327)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000443327 SCV000602792 uncertain significance not specified 2016-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000510111 SCV000608140 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732589 SCV000860562 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000443327 SCV000518223 likely benign not specified 2017-10-23 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.
Invitae RCV000226133 SCV000283161 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-05 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 341 of the BRCA2 protein (p.Cys341Arg). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs55833327, ExAC 0.02%). This variant has been reported in an individual affected with breast cancer (PMID: 28288110). ClinVar contains an entry for this variant (Variation ID: 236828). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on BRCA2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000443327 SCV000600457 uncertain significance not specified 2016-09-15 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.