Variants
PMS2 variants
Predicted effect: Splice site or region. 45 of the 166 PMS2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.24-12_107delinsAAAT | Exon 2 | 6,005,948 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.163+2T>C | Intron 2 | 6,005,890 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.164-2A>G | Intron 2 | 6,004,060 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.164-518_803+252delinsCG | Intron 7 | 5,997,074 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.251-2A>G | Intron 3 | 6,003,794 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.538-478_705+456del | Intron 6 | 5,998,651 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.705+1G>T | Intron 6 | 5,999,107 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.989-2A>G | Intron 9 | 5,989,957 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.989-296_1144+706del | Intron 10 | 5,989,093 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1144+2T>A | Intron 10 | 5,989,798 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2007-1G>A | Intron 11 | 5,982,992 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2174+1G>AIVS12+1G>A | Intron 12 | 5,982,823 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2276-91_2445+790del | Intron 14 | 5,976,797 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2276-113_2445+1596del | Intron 14 | 5,975,991 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| Y268Lfs*31 | c.802dup | Exon 7 | 5,997,326 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.23+1G>T | Intron 1 | 6,008,996 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.163+1G>T | Intron 2 | 6,005,891 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.164-1G>A | Intron 2 | 6,004,059 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.164-1G>C | Intron 2 | 6,004,059 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.251-2A>T | Intron 3 | 6,003,794 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.354-2A>G | Intron 4 | 6,002,638 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.537+1del | Intron 5 | 6,002,451 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.537+1G>A | Intron 5 | 6,002,452 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.538-1G>A | Intron 5 | 5,999,276 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.538-1G>C | Intron 5 | 5,999,276 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.538-2A>G | Intron 5 | 5,999,277 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.803+1G>A | Intron 7 | 5,997,325 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.803+1G>T | Intron 7 | 5,997,325 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.803+5G>A | Intron 7 | 5,997,321 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.804-2A>G | Intron 7 | 5,995,635 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.903+1G>A | Intron 8 | 5,995,533 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.903+1G>C | Intron 8 | 5,995,533 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.903+2T>C | Intron 8 | 5,995,532 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.903G>A | Exon 8 | 5,995,534 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.904-2A>G | Intron 8 | 5,992,059 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.989-1G>TIVS9-1G>T | Intron 9 | 5,989,956 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1144+1G>A | Intron 10 | 5,989,799 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2007-2A>G | Intron 11 | 5,982,993 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2175-1G>C | Intron 12 | 5,978,697 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2175-2A>G | Intron 12 | 5,978,698 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2275+1G>C | Intron 13 | 5,978,595 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2275+1G>T | Intron 13 | 5,978,595 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2445+1G>A | Intron 14 | 5,977,587 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2445+1G>T | Intron 14 | 5,977,587 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| D55Nfs*2 | c.162_163insAATT | Exon 2 | 6,005,892 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |