MUTYH
Chr 1ARmutY DNA glycosylase
Also known as: MYH
This DNA glycosylase removes inappropriately paired adenine bases from oxidative DNA damage sites, particularly adenine paired with 8-oxoguanine lesions. Biallelic mutations cause MUTYH-associated polyposis (MAP), characterized by multiple colorectal adenomas and increased risk of colorectal and gastric cancer, following autosomal recessive inheritance. The gene shows high tolerance to loss-of-function variants (LOEUF 1.19), suggesting the recessive phenotype requires complete loss of function.
Disputed — evidence questions this relationship
6 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 13 | 0 | 1 | 0 | 14 |
Likely Pathogenic | 5 | 1 | 0 | 0 | 6 |
VUS | 1 | 391 | 10 | 0 | 402 |
Likely Benign | 1 | 10 | 37 | 16 | 64 |
Benign | 0 | 2 | 2 | 0 | 4 |
| Total | 20 | 404 | 50 | 16 | 490 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MUTYH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
NOT YET RECRUITINGVideo Capsule Examination in Patients With Lynch Syndrome
RECRUITINGFamilial Adenomatous Poliposys Italian Network (Rete Italiana Poliposi Adenomatosa Familiare)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools