ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1145-4T>C

dbSNP: rs1583324165
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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 RCV001017450 SCV001178533 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-11 criteria provided, single submitter clinical testing The c.1145-4T>C intronic variant results from a T to C substitution 4 nucleotides upstream from coding exon 11 in the PMS2 gene. This nucleotide position is not well 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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