ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1066-3C>G

dbSNP: rs1565378708
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001009827 SCV001169941 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-30 criteria provided, single submitter clinical testing The c.1066-3C>G intronic variant results from a C to G substitution 3 nucleotides upstream from coding exon 8 in the ATM gene. This nucleotide position is not well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice acceptor site, but is predicted to weaken (but not abolish) the efficiency of the native splice acceptor site by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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