ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2165dup (p.Glu723fs) (rs397507178)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129381 SCV000184147 pathogenic Hereditary cancer-predisposing syndrome 2018-12-21 criteria provided, single submitter clinical testing The c.2165dupA pathogenic mutation, located in coding exon 13 of the RAD50 gene, results from a duplication of A at nucleotide position 2165, causing a translational frameshift with a predicted alternate stop codon (p.E723Gfs*5). This alteration (designated as c.2157dupA) was reported in a cohort of 133 patients with early-onset or familial breast cancer (Lin PH et al. Oncotarget. 2016 Feb;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 RCV000129381 SCV000255302 pathogenic Hereditary cancer-predisposing syndrome 2020-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu723Glyfs*5) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in individuals with breast cancer (PMID: 25452441, 26824983). This variant is also known as c.2157dupA in the literature. ClinVar contains an entry for this variant (Variation ID: 141045). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000500926 SCV000596683 pathogenic Nijmegen breakage syndrome-like disorder 2016-04-20 criteria provided, single submitter clinical testing
GeneKor MSA RCV000708625 SCV000821773 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This variant is a duplication of 1 nucleotide in exon 13 of RAD50 mRNA (c.2165dupA). causing a frameshift at codon 723. This creates a premature translational stop signal (p.Glu723Glyfs*5) and is expected to result in an absent or disrupted protein product. Truncating mutations in RAD50 are known to be pathogenic. The mutation database ClinVar contains an entry for this variant (Variation ID: 37377/).
CZECANCA consortium RCV001271000 SCV001451812 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided case-control

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