ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2459-4dup

dbSNP: rs1667489393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222919 SCV001395042 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429945 SCV002731621 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-03 criteria provided, single submitter clinical testing The c.2459-4dupA intronic variant results from a duplication of one nucleotide at position c.2459-4 within intron 14 of the MSH2 gene. This nucleotide position is not 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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