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

gnomAD frequency: 0.05209  dbSNP: rs1804670

Total submissions: 7

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: seen in unaffected individuals, 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
Labcorp Genetics (formerly Invitae), Labcorp	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