ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.988+4A>G

gnomAD frequency: 0.00001  dbSNP: rs763959308
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720229 SCV000526277 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555625 SCV000625712 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-09-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000579979 SCV000686264 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579979 SCV001181266 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-03 criteria provided, single submitter clinical testing The c.988+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 9 in the PMS2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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