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 |
|---|---|---|---|
| RS1570373782 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1570382822 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1570408704 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1570409700 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1644799870 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1645057147 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1645164432 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1645259682 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast carcinoma, Familial adenomatous polyposis 2 |
| RS1645370714 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149088820 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149090006 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149102678 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149102703 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2149112658 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149120608 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2149126191 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149130255 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149133294 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149134563 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149135116 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149136521 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Melanoma, Familial adenomatous polyposis 2 |
| RS2149142613 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149158986 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149185686 | Health Risk | Likely pathogenic | — |
| RS2523744619 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2523841162 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2523843503 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2523846596 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2523849246 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2523921332 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2523972711 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2523990767 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2523998901 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524001191 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524007817 | Health Risk | Likely pathogenic | — |
| RS2524012540 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524154093 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524198581 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524216149 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2524219849 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524243548 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524243658 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524250418 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2524258876 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524275031 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524284138 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS587781529 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587782730 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS587782885 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Carcinoma of colon, Familial adenomatous polyposis 2 |
| RS761763725 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |