ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.260G>A (p.Arg87His) (rs374561375)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656958 SCV000149852 uncertain significance not provided 2019-12-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in individuals with breast cancer (Damiola 2014, Couch 2015, Maxwell 2015); This variant is associated with the following publications: (PMID: 25452441, 25503501, 24894818)
Ambry Genetics RCV000115943 SCV000187174 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-20 criteria provided, single submitter clinical testing The p.R87H variant (also known as c.260G>A), located in coding exon 3 of the RAD50 gene, results from a G to A substitution at nucleotide position 260. The arginine at codon 87 is replaced by histidine, an amino acid with highly similar properties. This alteration has been detected in 1/1824 patients with triple negative breast cancer who were unselected for a family history of breast or ovarian cancer (Couch FJ et al. J. Clin. Oncol. 2015 Feb;33:304-11). This alteration was also detected in a cohort of individuals diagnosed with breast cancer prior to age 45 years (Young E et al. J. Med. Genet. 2016 06;53(6):366-76). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000115943 SCV000259567 likely benign Hereditary cancer-predisposing syndrome 2020-12-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212900 SCV000596678 uncertain significance not specified 2016-02-10 criteria provided, single submitter clinical testing
Counsyl RCV000662847 SCV000785714 uncertain significance Nijmegen breakage syndrome-like disorder 2017-11-19 criteria provided, single submitter clinical testing

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