ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) (rs121912628)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575384 SCV000663600 pathogenic Hereditary cancer-predisposing syndrome 2017-09-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000006230 SCV000785384 likely pathogenic Nijmegen breakage syndrome-like disorder 2017-07-19 criteria provided, single submitter clinical testing
Invitae RCV000575384 SCV000829513 pathogenic Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1093*) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121912628, ExAC 0.001%). This variant has been observed in an individual affected with medulloblastoma (PMID: 19409520) and in an individual affected with Nijmegen breakage syndrome-like disorder who had a different pathogenic variant in RAD50 on the opposite chromosome (trans) (PMID: 19409520). ClinVar contains an entry for this variant (Variation ID: 5872). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006230 SCV000026412 pathogenic Nijmegen breakage syndrome-like disorder 2009-05-01 no assertion criteria provided literature only

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.