ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)

dbSNP: rs1561635887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687296 SCV000814855 pathogenic Hereditary cancer-predisposing syndrome 2021-12-24 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: 567271). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn152*) 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).
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315440 SCV004015270 pathogenic Familial cancer of breast 2023-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn152*) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals with RAD50-related disease. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). Therefore, this variant has been classified as Pathogenic.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984943 SCV001132857 likely pathogenic Nijmegen breakage syndrome-like disorder 2019-01-29 no assertion criteria provided clinical testing

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