ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) (rs1060501941)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472041 SCV000547983 pathogenic Hereditary cancer-predisposing syndrome 2018-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1010Argfs*14) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast or ovarian cancer (PMID: 26786923). ClinVar contains an entry for this variant (Variation ID: 408355). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000472041 SCV000671758 pathogenic Hereditary cancer-predisposing syndrome 2018-11-29 criteria provided, single submitter clinical testing The c.3029_3032delCACA pathogenic mutation, located in coding exon 19 of the RAD50 gene, results from a deletion of 4 nucleotides at nucleotide positions 3029 to 3032, causing a translational frameshift with a predicted alternate stop codon (p.T1010Rfs*14). This mutation was detected in 1/2000 breast cancer patients who underwent multi-gene panel testing (Thompson ER et al. J Clin Oncol. 2016 May 1;34(13):1455-9). 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.
Counsyl RCV000576588 SCV000677886 likely pathogenic Nijmegen breakage syndrome-like disorder 2017-03-22 criteria provided, single submitter clinical testing

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