ClinVar Miner

Submissions for variant NM_000038.6(APC):c.136-5A>G

dbSNP: rs1581159924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003649164 SCV001129484 likely benign Familial adenomatous polyposis 1 2019-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011054 SCV001171333 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-25 criteria provided, single submitter clinical testing The c.136-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 2 in the APC gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; 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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