{{Rsnum
|rsid=2228006
|Gene=PMS2
|Chromosome=7
|position=5987144
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1208
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PMS2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 25.9 | 73.2
| HCB | 2.2 | 10.9 | 86.9
| JPT | 0.0 | 13.3 | 86.7
| YRI | 0.0 | 10.3 | 89.7
| ASW | 0.0 | 19.3 | 80.7
| CHB | 2.2 | 10.9 | 86.9
| CHD | 0.0 | 11.0 | 89.0
| GIH | 2.0 | 18.8 | 79.2
| LWK | 0.9 | 15.5 | 83.6
| MEX | 8.6 | 34.5 | 56.9
| MKK | 0.6 | 18.7 | 80.6
| TSI | 0.0 | 24.5 | 75.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=2228006
|allele=C
|frequency=0.867
|uid=1103652487015
|type=homozygous_SNP
|hugo=PMS2
|ensembl gene=ENSG00000122512
|ensembl transcript=ENST00000265849
|sift=TOLERATED
|disease=Defects in PMS2 are a cause of supratentorial primitive neuroectodermal tumors with cafe-au-lait spots (SNTCL) (MIM:608623). Supratentorial primitive neuroectodermal tumor (SPNET) is a rare and aggressive embryonal tumor, most likely derived from primitive neuroepithelial cells. SPNET has a poor prognosis, with median survival of less than 2 years.
}}

{{PMID Auto
|PMID=18723338
|Title=Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}