ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1484G>A (p.Ser495Asn)

gnomAD frequency: 0.00001  dbSNP: rs1060501967
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
Invitae RCV000458110 SCV000548067 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 495 of the RAD50 protein (p.Ser495Asn). This variant is present in population databases (no rsID available, gnomAD 0.007%). ClinVar contains an entry for this variant (Variation ID: 408405). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAD50 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000458110 SCV001172185 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-01 criteria provided, single submitter clinical testing The p.S495N variant (also known as c.1484G>A), located in coding exon 10 of the RAD50 gene, results from a G to A substitution at nucleotide position 1484. The serine at codon 495 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Sema4, Sema4 RCV002257711 SCV002538453 uncertain significance Nijmegen breakage syndrome-like disorder 2021-04-15 criteria provided, single submitter curation

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.