ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) (rs587782895)

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 RCV000132534 SCV000187631 pathogenic Hereditary cancer-predisposing syndrome 2017-12-06 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 RCV000662958 SCV000785928 pathogenic Nijmegen breakage syndrome-like disorder 2018-01-15 criteria provided, single submitter clinical testing
Invitae RCV000132534 SCV000548004 pathogenic Hereditary cancer-predisposing syndrome 2018-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln833Argfs*11) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with breast cancer (PMID: 26824983). ClinVar contains an entry for this variant (Variation ID: 143015). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.

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.