ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.214-5C>G

dbSNP: rs534966725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214142 SCV000273054 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-29 criteria provided, single submitter clinical testing The c.214-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 3 in the RAD50 gene. This nucleotide position is well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by ESEfinder to weaken the efficacy of the native acceptor splice site, but is not predicted to have a deleterious effect on this acceptor splice site by BDGP; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000214142 SCV001131810 likely benign Hereditary cancer-predisposing syndrome 2023-10-13 criteria provided, single submitter clinical testing

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