ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2091C>T (p.Val697=) (rs61747588)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131559 SCV000186562 benign Hereditary cancer-predisposing syndrome 2014-11-29 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
GeneDx RCV000212912 SCV000211605 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 RCV000131559 SCV000260569 benign Hereditary cancer-predisposing syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000410362 SCV000488654 likely benign Nijmegen breakage syndrome-like disorder 2016-06-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000212912 SCV000918118 benign not specified 2018-01-08 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.2091C>T (p.Val697Val) variant involves the alteration of a non-conserved nucleotide causes a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 129/277028 control chromosomes (gnomAD), predominantly observed in the African subpopulation at a frequency of 0.004827 (116/24030). This frequency is about 77 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. A publication, Young_2016, cites the variant, however, with limited information. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.

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