ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.561dup (p.Ala188fs)

dbSNP: rs876659005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000226081 SCV000274945 pathogenic Hereditary cancer-predisposing syndrome 2022-03-17 criteria provided, single submitter clinical testing The c.561dupA pathogenic mutation, located in coding exon 5 of the RAD50 gene, results from a duplication of A at nucleotide position 561, causing a translational frameshift with a predicted alternate stop codon (p.A188Sfs*30). 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 RCV000226081 SCV000289074 pathogenic Hereditary cancer-predisposing syndrome 2023-09-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala188Serfs*30) 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). This variant is present in population databases (rs774886464, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 231180). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000411533 SCV000489565 likely pathogenic Nijmegen breakage syndrome-like disorder 2016-10-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411533 SCV004209718 likely pathogenic Nijmegen breakage syndrome-like disorder 2022-02-28 criteria provided, single submitter clinical testing

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