ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=)

gnomAD frequency: 0.05209  dbSNP: rs1804670
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162382 SCV000212693 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000409557 SCV000488553 benign Nijmegen breakage syndrome-like disorder 2016-06-03 criteria provided, single submitter clinical testing
Invitae RCV000162382 SCV000559094 benign Hereditary cancer-predisposing syndrome 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587341 SCV000698655 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.3846T>C (p.Tyr1282Tyr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool (MutationTaster) predicts a polymorphism outcome for this variant. This variant was found in 1833/121336 control chromosomes (146 homozygotes) at a frequency of 0.0151068, which is approximately 242 times the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this variant is likely a benign polymorphism. It is a common polymorphism in African population with allele frequency of 16.52% (1717/10392 chromosomes) including 145 homozygotes. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as Benign.
GeneDx RCV000587341 SCV001856432 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478494 SCV002046732 benign not specified 2021-03-16 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315975 SCV004017227 benign Familial cancer of breast 2023-07-07 criteria provided, single submitter clinical testing

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