ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1017dup (p.Asn340fs)

dbSNP: rs753905518
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001009708 SCV001169806 pathogenic Hereditary cancer-predisposing syndrome 2019-11-27 criteria provided, single submitter clinical testing The c.1017dupC pathogenic mutation, located in coding exon 7 of the RAD50 gene, results from a duplication of C at nucleotide position 1017, causing a translational frameshift with a predicted alternate stop codon (p.N340Qfs*10). This alteration was identified in a cohort of families with multiple cases of breast and/or ovarian cancer diagnoses undergoing multigene panel testing (Li J et al. J. Med. Genet. 2016 Jan;53:34-42). 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.

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