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APC

Synonyms
BTPS2, DESMD, DP2, DP2.5, DP3, GS, PPP1R46
External resources
Summary
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. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
10
Likely pathogenic
1
VUS
1,839
Likely benign
2,922
Benign
797

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on APC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Neoplasm
45.5%
Abnormality of the nervous system
36.4%
Abnormality of the digestive system
27.3%
Abnormality of the genitourinary system
27.3%
Growth abnormality
27.3%
Abnormality of head or neck
18.2%
Abnormality of the endocrine system
18.2%
Abnormality of the eye
18.2%
Abnormality of the musculoskeletal system
18.2%
Abnormality of limbs
9.1%
Abnormality of the immune system
9.1%
Abnormality of the integument
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the ear
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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