rs373885654
A SNP in the PMS2 gene on chromosome 7. Its most notable genotype is C;G: Lynch syndrome
- Gene
- PMS2
- Location
- Chr 75,989,799 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;GMost notableBadLynch syndrome
- C;TBadsuspected Hereditary Non-Polyposis Colorectal Cancer (HNPCC)/Lynch syndrome
- T;TBadsuspected Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome
On SNPedia: (C;C), (C;G), (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
Splice site alteration. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native donor splice site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice donor site are typically deleterious in nature .
Source and license
Adapted from rs373885654 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.