rs200165598
A SNP in the MUTYH gene on chromosome 1. Its most notable genotype is C;T: Possible polyp associated variant, but of uncertain significance
- Gene
- MUTYH
- Location
- Chr 145,332,479 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon/normal
- C;TMost notableBadPossible polyp associated variant, but of uncertain significance
- T;TBadPossible polyp associated variant, but of uncertain significance
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other MUTYH SNPs
- rs34612342C;Cincreased risk for several cancersVery important
- rs36053993T;Tlikely to be at somewhat increased risk for colorectal cancersVery important
- rs77542170C;Cautosomal recessive familial adenomatous polyposis-2 (FAP2)Very important
- rs1060501342-;CCincreased risk for several cancersVery important
- rs121908380G;TCarrier of a MUTYH-related familial adenomatous polyposis mutationImportant
- rs121908381A;CCarrier of a MUTYH-related familial adenomatous polyposis mutationImportant
- rs143353451C;TCarrier of a MUTYH-related familial adenomatous polyposis mutationImportant
- rs376561094A;GCarrier of a MUTYH-related familial adenomatous polyposis mutationImportant
Notes
From SNPedia
Show notes, about 210 words
rs200165598, also known as c.700G>A, p.Val234Met and V234M, represents a rare variant in the MUTYH gene on chromosome 1. The rs200165598(A) variant is considered in ClinVar to be of uncertain significance, i.e. it's association with MYH-associated polyposis (thereby perhaps mimicking Lynch syndrome) is unclear. A SNPedia user has reported to us that this variant was seen in an exome analysis of a family member who has had several rounds of colon surgery due to recurrent polyp illness, and that if it's the cause, it's apparently acting as a dominant mutation since no other questionable MUTYH gene variants were found (although there could be variants that weren't sequenced outside the exons). We encourage other SNPedia (and Promethease) users carrying the rs200165598(A) variant to report any related evidence for or against this association. Of note, most of those with non-Lynch syndrome polyps were found to have mono-allelic MUTYH variants instead of bi-allelic Research from the online platform FindMyVariant.org has provided confirming evidence that MUTYH rs200165598 is pathogenic, though in the family described the MUTYH variant 536A>G co-occurred. {see Supplementary Table S1 (family 1085)}.
C;T
see discussion at rs200165598
T;T
see discussion at rs200165598
Source and license
Adapted from rs200165598 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.