ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2718+10T>G (rs765764447)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461349 SCV000559130 likely benign Hereditary cancer-predisposing syndrome 2020-09-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781781 SCV000920106 uncertain significance not specified 2018-01-02 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.2718+10T>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 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 6/227078 control chromosomes, observed exclusively in the Latino subpopulation at a frequency of 0.000198 (6/30292). This frequency is about 3 times the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this may be a benign polymorphism found primarily in the populations of Latino origin. One clinical diagnostic laboratory classified this variant as 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 VUS-possibly benign.

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