ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1168_1169del (p.Glu390fs)

dbSNP: rs876660160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223038 SCV000277353 pathogenic Hereditary cancer-predisposing syndrome 2017-01-16 criteria provided, single submitter clinical testing The c.1168_1169delGA pathogenic mutation, located in coding exon 8 of the RAD50 gene, results from a deletion of two nucleotides at nucleotide positions 1168 to 1169, causing a translational frameshift with a predicted alternate stop codon (p.E390Kfs*4). 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 RCV000223038 SCV001579283 pathogenic Hereditary cancer-predisposing syndrome 2021-10-09 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: 233055). 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.Glu390Lysfs*4) 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).

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