APC Chromosome 5
APC regulator of Wnt signaling pathway
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What This Gene Does
This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers, where disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jun 2022]
Gene Info
Gene Group
"Armadillo repeat containing|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
5q22.2
Ensembl
ENSG00000134982
Associated Conditions (58)
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Desmoid disease
hereditary
Carcinoma of colon
Hepatocellular carcinoma
Neoplasm of stomach
Classic or attenuated familial adenomatous polyposis
APC-related disorder
Colorectal cancer
susceptibility to
APC-related attenuated familial adenomatous polyposis
Colorectal adenoma
Familial multiple polyposis syndrome
Familial colorectal cancer
APC-Associated Polyposis Disorders
Gastric cancer
Gardner syndrome
Neoplasm
6 conditions
+38 more conditions
Key Variants
RS1029997545
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
Health Risk
RS1034113927
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
Health Risk
RS1043505718
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
Health Risk
RS1045063324
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
Health Risk
RS1055180096
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Desmoid disease
Health Risk
RS1057517549
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
Health Risk
RS1057523515
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Classic or attenuated familial adenomatous polyposis
Health Risk
RS1057524155
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
Health Risk
RS1057524298
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Classic or attenuated familial adenomatous polyposis
Health Risk
RS1060503260
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis, Familial adenomatous polyposis 1
Health Risk
RS1060503281
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
Health Risk
RS1060503346
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis, Familial adenomatous polyposis 1
Health Risk
All Variants (2768)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2149781846 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149782151 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149782982 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149783185 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149783277 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149783399 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS2149783521 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149783845 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149783907 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149784543 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS2149784571 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149787552 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149787843 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149788254 | Health Risk | Pathogenic | Familial multiple polyposis syndrome, Familial adenomatous polyposis 1, Familial multiple polyposis syndrome |
| RS2149788271 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149788717 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149788724 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149789500 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149789815 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149791774 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149791883 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149792567 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |
| RS2149792705 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149792825 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149809361 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149809585 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149809668 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149809839 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS2149810193 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149813186 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149813289 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149813390 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149813460 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149813858 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149813938 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149813944 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Gastric cancer, Hereditary cancer-predisposing syndrome |
| RS2149816948 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149816966 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149817124 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149818305 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149818599 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149840516 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149840729 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS2149840797 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149841054 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149841625 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |
| RS2149841665 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149841774 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149842095 | Health Risk | Pathogenic | — |
| RS2149842140 | Health Risk | Pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |