ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs)

dbSNP: rs878854799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226547 SCV000289057 pathogenic Hereditary cancer-predisposing syndrome 2023-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1164Glyfs*22) 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 not present in population databases (gnomAD no frequency). 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: 240238). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000576613 SCV000677840 likely pathogenic Nijmegen breakage syndrome-like disorder 2017-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000226547 SCV002612810 pathogenic Hereditary cancer-predisposing syndrome 2021-02-16 criteria provided, single submitter clinical testing The c.3489_3495delAGAAATA pathogenic mutation, located in coding exon 23 of the RAD50 gene, results from a deletion of 7 nucleotides at nucleotide positions 3489 to 3495, causing a translational frameshift with a predicted alternate stop codon (p.E1164Gfs*22). 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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