ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) (rs1804670)

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Total submissions: 4
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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 General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
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 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.

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