rs267608150
A SNP in the PMS2 gene on chromosome 7. Its most notable genotype is CCCCCT;TGTGTGTGAAG: Lynch syndrome, pathogenic mutation
- Gene
- PMS2
- Location
- Chr 75,997,388 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- CCCCCT;CCCCCTGoodcommon in clinvar
- CCCCCT;TGTGTGTGAAGMost notableBadLynch syndrome, pathogenic mutation
On SNPedia: (CCCCCT;CCCCCT), (CCCCCT;TGTGTGTGAAG). 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
aka c.736_741delCCCCCTinsTGTGTGTGAAG, p.Pro246Cysfs or p.Pro246Cysfs*3 Definitely pathogenic for Lynch syndrome and a founder mutation in Iceland, according to
Source and license
Adapted from rs267608150 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.