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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. Mutations in the APC gene have been found to occur in most colorectal cancers. 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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
17
Likely pathogenic
6
VUS
2,392
Likely benign
8,528
Benign
1,595

Patient phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on APC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Neoplasm
38.1%
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the digestive system
23.8%
Abnormality of the genitourinary system
23.8%
Growth abnormality
19%
Abnormality of head or neck
14.3%
Abnormality of the endocrine system
14.3%
Abnormality of the eye
9.5%
Abnormality of the integument
9.5%
Abnormality of limbs
4.8%
Abnormality of the ear
4.8%
Abnormality of the immune system
4.8%
Abnormality of the respiratory system
4.8%
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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