ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2095_2113dup (p.Leu705delinsGlnTer)

dbSNP: rs1750779319
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939362 SCV002237123 pathogenic Hereditary cancer-predisposing syndrome 2021-07-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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.Leu705Glnfs*2) 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 RCV002258340 SCV002538468 likely pathogenic Nijmegen breakage syndrome-like disorder 2021-03-18 criteria provided, single submitter curation
Ambry Genetics RCV001939362 SCV003858277 pathogenic Hereditary cancer-predisposing syndrome 2022-12-07 criteria provided, single submitter clinical testing The c.2095_2113dup19 pathogenic mutation, located in coding exon 13 of the RAD50 gene, results from a duplication of AGTGATTTGCAGTCTAAAC at nucleotide position 2095, causing a translational frameshift with a predicted alternate stop codon (p.L705Qfs*2). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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