ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2670G>A (p.Gln890=) (rs112241748)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131562 SCV000186566 benign Hereditary cancer-predisposing syndrome 2014-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000212913 SCV000211606 benign not specified 2014-01-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000131562 SCV000260570 benign Hereditary cancer-predisposing syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000409233 SCV000488653 likely benign Nijmegen breakage syndrome-like disorder 2016-06-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212913 SCV000860259 likely benign not specified 2018-03-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000212913 SCV000918120 benign not specified 2018-01-08 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.2670G>A (p.Gln890Gln) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 176/277102 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.006285 (151/24026). This frequency is about 101 times the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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