ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2025C>T (p.Asp675=) (rs34147298)

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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 RCV000128894 SCV000172754 benign Hereditary cancer-predisposing syndrome 2014-11-21 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 RCV000410486 SCV000488551 benign Nijmegen breakage syndrome-like disorder 2016-06-03 criteria provided, single submitter clinical testing
Invitae RCV000128894 SCV000559113 benign Hereditary cancer-predisposing syndrome 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590384 SCV000698651 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The c.2025C>T (p.Asp675=) in RAD50 gene is a synonymous change that involves a non-conserved nucleotide. 4/5 splice prediction algorithms predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.0075 (913/121322 chrs tested), predominantly in individuals of African origin (0.0824; 858/10292 control chrs) including numerous homozygous occurrences. This frequency exceeds the maximal expected frequency of a pathogenic allele (0.00006) in this gene. Thus it is a benign polymorphism mainly found in Africans. The variant of interest has been classified as benign by a laboratory in ClinVar. Taking together, the variant is classified as Benign.

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