rs63750871
A SNP in the PMS2 gene on chromosome 7. Its most notable genotype is C;T: Lynch syndrome
- Gene
- PMS2
- Location
- Chr 76,002,590 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadLynch syndrome
- G;GGoodcommon in clinvar
- A;GBadpredisposition for mismatch repair cancer syndrome?
- A;ABadpredisposition for mismatch repair cancer syndrome?
SNPedia records rs63750871 on the minus strand: (A;G), (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other PMS2 SNPs
- rs3209663G;TLynch syndromeVery important
- rs63750049-;TLynch syndrome, pathogenic mutationVery important
- rs63750106-;TLynch syndrome, pathogenic mutationVery important
- rs63750246-;CALynch syndrome, pathogenic mutationVery important
- rs63750250-;TLynch syndrome, pathogenic mutationVery important
- rs63750261C;TLynch syndromeVery important
- rs63750451C;TLynch syndromeVery important
- rs63750477-;TLynch syndrome, pathogenic mutationVery important
Notes
From SNPedia
Notes
rs63750871 is a SNP in the PMS2 gene on chromosome 7, associated with mismatch repair cancer syndrome. Subsequent findings were consistent with autosomal recessive inheritance for the cancers associated with this SNP, however another study suggested the possibility that a heterozygous genotype for this SNP could act in a dominant-negative manner.{PMID|9488480|OA=1}} This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. See also OMIM 600259.0001
A;G
see discussion at rs63750871
A;A
see discussion at rs63750871
Source and license
Adapted from rs63750871 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.