MUTYH encodes a DNA repair enzyme (a glycosylase) that fixes oxidative DNA damage by removing adenine bases that have been mistakenly paired with guanine or with oxidized guanine lesions. Inherited mutations in both copies of the gene cause MUTYH-associated polyposis (MAP), a recessive condition that strongly predisposes people to multiple colorectal polyps and colorectal cancer. The gene acts as a tumor suppressor whose loss of function allows DNA damage to accumulate, and somatic changes in it have also been reported in colon cancer, though whether they drive cancer on their own is not fully established.
MUTYH encodes a DNA-repair glycosylase, and biallelic pathogenic variants cause recessive MUTYH-associated polyposis with increased colorectal polyp and cancer risk.
VUS: PS3 supporting was assigned because p.Arg309Cys was partially defective in a controlled complementation assay, but this alone is insufficient for a definitive classification.
European (non-Finnish) 1042 / 1,180,034 |
0.088% 1 hom |
Remaining individuals 41 / 62,510 |
0.066% |
Middle Eastern 2 / 6,062 |
0.033% |
Admixed American 14 / 60,026 |
0.023% |
European (Finnish) 9 / 64,034 |
0.014% |
African/African American 9 / 75,052 |
0.012% |
Ashkenazi Jewish 1 / 29,608 |
0.0034% |
South Asian 3 / 91,086 |
0.0033% |
European (non-Finnish) 117 / 129,078 |
0.091% |
Remaining individuals 5 / 7,226 |
0.069% |
Admixed American 5 / 35,422 |
0.014% |
Ashkenazi Jewish 1 / 10,370 |
0.0096% |
African/African American 2 / 24,932 |
0.008% |
European (Finnish) 2 / 25,122 |
0.008% |
South Asian 1 / 30,614 |
0.0033% |
