MUTYH Chromosome 1
MutY DNA glycosylase
Upload your DNA to see your personal genotypes for variants in MUTYH.
What This Gene Does
This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
DNA glycosylases
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000132781
Associated Conditions (62)
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Gastric cancer
MUTYH-related disorder
MUTYH-related Breast Cancer
Hereditary cancer
Familial colorectal cancer type X
Pilocytic astrocytoma
Neoplasm of stomach
Pilomatrixoma
Breast carcinoma
Carcinoma of colon
Diffuse midline glioma
H3 K27-altered
Anaplastic/large cell medulloblastoma
Neoplasm
See cases
Thyroid cancer
nonmedullary
1
+42 more conditions
Key Variants
RS1003387951
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1057517460
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Gastric cancer
Health Risk
RS1057520831
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057524506
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, MUTYH-related disorder
Health Risk
RS1060501323
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501325
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501326
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501327
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501328
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501329
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501330
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501338
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
All Variants (862)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2524246510 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524260307 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524263141 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524271761 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524271890 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524273545 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2524273974 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524274573 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Gastric cancer, Familial adenomatous polyposis 2 |
| RS2524276243 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524283822 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524286564 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524351874 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2524356477 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524357772 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524360107 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2524697578 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2524698721 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS372267274 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS376561094 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS376790729 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, MUTYH-related disorder |
| RS529008617 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Carcinoma of colon, Familial adenomatous polyposis 2 |
| RS558173961 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Gastric cancer |
| RS563885946 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Gastric cancer |
| RS587780082 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Gastric cancer |
| RS587781338 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587781704 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Gastric cancer |
| RS587783057 | Health Risk | Pathogenic | Carcinoma of colon, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS745910470 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS748170941 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Gastric cancer |
| RS761468459 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS762307622 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Carcinoma of colon |
| RS768130289 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS768386527 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS769152217 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS774798236 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS774968843 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS786203213 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS869312771 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876659625 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS878854183 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS886046367 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS892204813 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1057517456 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1057517457 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1057517765 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS1060501321 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1060501324 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1060501335 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1064795480 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1064795596 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |