ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3271_3272del (p.Glu1091fs)

dbSNP: rs1581009466
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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 RCV001019558 SCV001180933 pathogenic Hereditary cancer-predisposing syndrome 2019-04-09 criteria provided, single submitter clinical testing The c.3271_3272delGA pathogenic mutation, located in coding exon 21 of the RAD50 gene, results from a deletion of two nucleotides at nucleotide positions 3271 to 3272, causing a translational frameshift with a predicted alternate stop codon (p.E1091Tfs*10). 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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