ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1002_1005del (p.Lys334fs)

dbSNP: rs1554098203
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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 RCV000570382 SCV000671777 pathogenic Hereditary cancer-predisposing syndrome 2016-05-24 criteria provided, single submitter clinical testing The c.1002_1005delAGAA pathogenic mutation, located in coding exon 7 of the RAD50 gene, results from a deletion of 4 nucleotides between nucleotide positions 1002 and 1005, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV000570382 SCV000828941 pathogenic Hereditary cancer-predisposing syndrome 2022-05-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys334Asnfs*36) 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: 484646). For these reasons, this variant has been classified as Pathogenic.

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