ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.326_329del (p.Thr109fs) (rs587780155)

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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 RCV000115954 SCV000186501 pathogenic Hereditary cancer-predisposing syndrome 2018-07-26 criteria provided, single submitter clinical testing The c.326_329delCAGA pathogenic mutation, located in coding exon 3 of the RAD50 gene, results from a deletion of 4 nucleotides at nucleotide positions 326 to 329, causing a translational frameshift with a predicted alternate stop codon (p.T109Nfs*20). This mutation has been reported in multiple individuals with personal and/or family histories of breast, colon, prostate, and other cancers (Foley SB et al. EBioMedicine. 2015 Jan;2:74-81; Schrader KA et al. JAMA Oncol. 2016 Jan;2:104-11; Coppa A et al. Cancer Med. 2018 Jan;7:46-55; Perkins BA et al. Proc. Natl. Acad. Sci. U.S.A. 2018 Apr;115:3686-3691). 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 RCV000115954 SCV000548028 pathogenic Hereditary cancer-predisposing syndrome 2020-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr109Asnfs*20) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746156420, ExAC 0.003%). This variant has been reported in an individual affected with breast cancer (PMID: 26023681). ClinVar contains an entry for this variant (Variation ID: 128017). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.
GeneKor MSA RCV000115954 SCV000821770 pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This variation is a deletion of 4 nucleotides from exon 3 of the RAD50 mRNA, causing a frameshift after codon 109 and the creation of a premature translation stop signal 20 amino acid residues later - p.(Thr109Asnfs*20). This is expected to result in an absent or disrupted protein product. The mutation database ClinVar contains entries for this variant (Variation ID: 128017).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000497298 SCV001154518 likely pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Umraniye Training and Research Hospital,University of Health Sciences RCV001554266 SCV001774871 pathogenic Breast carcinoma 2021-08-09 no assertion criteria provided clinical testing

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