ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)

gnomAD frequency: 0.00001  dbSNP: rs1247689593
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562754 SCV000663749 pathogenic Hereditary cancer-predisposing syndrome 2017-07-31 criteria provided, single submitter clinical testing The p.R365* pathogenic mutation (also known as c.1093C>T), located in coding exon 8 of the RAD50 gene, results from a C to T substitution at nucleotide position 1093. This changes the amino acid from an arginine to a stop codon within coding exon 8. In one Czech study, this mutation was observed in 1/325 high-risk breast cancer patients and 0/105 controls who underwent testing for 25 genes (Lhota F et al. Clin. Genet. 2016 Oct;90:324-33). In addition to the clinical data presented in the literature, 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.
Counsyl RCV000576837 SCV000677867 likely pathogenic Nijmegen breakage syndrome-like disorder 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV000562754 SCV001233112 pathogenic Hereditary cancer-predisposing syndrome 2022-11-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 480489). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 26822949). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg365*) 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). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000576837 SCV003807478 pathogenic Nijmegen breakage syndrome-like disorder 2022-11-18 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderated
Baylor Genetics RCV000576837 SCV004207412 pathogenic Nijmegen breakage syndrome-like disorder 2023-04-20 criteria provided, single submitter clinical testing

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