rs587779344
A SNP in the PMS2 gene on chromosome 7. Its most notable genotype is -;G: Lynch Syndrome (possible); high colorectal cancer risk
- Gene
- PMS2
- Location
- Chr 75,997,349 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;GMost notableBadLynch Syndrome (possible); high colorectal cancer risk
- G;GGoodcommon in clinvar
SNPedia records rs587779344 on the minus strand: (-;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
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
rs587779344, also known as c.780delC or p.Asp261Metfs, represents a very rare mutation in the PMS2 gene on chromosome 7. The minor (deletion) allele is considered in Clinvar as pathogenic, as an autosomal dominant, for a form of Lynch syndrome, more specifically, colorectal cancer, hereditary nonpolyposis, type 4. This is based on information submitted by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), located here.
-;G
see discussion at rs587779344
Source and license
Adapted from rs587779344 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.