ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.399_400del (p.Ala134fs)

dbSNP: rs587781355
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129139 SCV000183860 pathogenic Hereditary cancer-predisposing syndrome 2023-04-28 criteria provided, single submitter clinical testing The c.399_400delTG pathogenic mutation, located in coding exon 4 of the RAD50 gene, results from a deletion of two nucleotides at nucleotide positions 399 to 400, causing a translational frameshift with a predicted alternate stop codon (p.A134Rfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV000129139 SCV000255303 pathogenic Hereditary cancer-predisposing syndrome 2023-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 140899). This premature translational stop signal has been observed in individual(s) with RAD50-related condition (PMID: 24763289). This variant is present in population databases (rs763407399, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala134Argfs*3) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520).

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.