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 |
|---|---|---|---|
| RS2149090030 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149090096 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149102589 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149103640 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Gastric cancer |
| RS2149113333 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2149114379 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149120668 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149127392 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149127726 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149128829 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149129071 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149135348 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149137273 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149137337 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149143657 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149146140 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149149399 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149151820 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2149153407 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2149155486 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149158164 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149161840 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2149164661 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149165354 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149165704 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2149172338 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149172789 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149174007 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2149175323 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149175874 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149177611 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2149186919 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149248633 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2523730908 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2523737120 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2523741447 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2523747340 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2523750373 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2523904059 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2523913093 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2523965164 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2523997432 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2524011165 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2524015442 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2524071268 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2524085166 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2524086960 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2524158645 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2524220978 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524222177 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |