ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) (rs587782895)

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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 RCV000132534 SCV000187631 pathogenic Hereditary cancer-predisposing syndrome 2017-12-06 criteria provided, single submitter clinical testing The c.2498_2499delAA pathogenic mutation, located in coding exon 15 of the RAD50 gene, results from a deletion of two nucleotides at nucleotide positions 2498 to 2499, causing a translational frameshift with a predicted alternate stop codon (p.Q833Rfs*11). This pathogenic mutation was observed in a study of high-risk breast cancer patients who underwent multi-gene panel testing (Lin PH et al. Oncotarget 2016 Feb;7(7):8310-20). In addition to the clinical data presented in the literature, 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 RCV000132534 SCV000548004 pathogenic Hereditary cancer-predisposing syndrome 2020-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln833Argfs*11) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with breast cancer (PMID: 26824983). ClinVar contains an entry for this variant (Variation ID: 143015). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000662958 SCV000785928 pathogenic Nijmegen breakage syndrome-like disorder 2018-01-15 criteria provided, single submitter clinical testing

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