ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs)

dbSNP: rs786203655
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167224 SCV000218061 pathogenic Hereditary cancer-predisposing syndrome 2023-04-28 criteria provided, single submitter clinical testing The c.1208_1209dupGA pathogenic mutation, located in coding exon 8 of the RAD50 gene, results from a duplication of GA at nucleotide position 1208, causing a translational frameshift with a predicted alternate stop codon (p.Q404Dfs*12). 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 RCV000167224 SCV001384663 pathogenic Hereditary cancer-predisposing syndrome 2021-09-29 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: 187490). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln404Aspfs*12) 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).
Sema4, Sema4 RCV002257472 SCV002538444 likely pathogenic Nijmegen breakage syndrome-like disorder 2022-03-21 criteria provided, single submitter curation

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