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COL4A2

Synonyms
BSVD2, ICH, POREN2
External resources
Summary
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter.

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
23
Likely pathogenic
0
VUS
6,222
Likely benign
24,751
Benign
515

Patient phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on COL4A2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.6%
Growth abnormality
28.6%
Abnormality of the eye
23.8%
Abnormality of the musculoskeletal system
23.8%
Abnormality of head or neck
19%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the immune system
9.5%
Abnormal cellular phenotype
4.8%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of limbs
4.8%
Abnormality of the digestive system
4.8%
Abnormality of the endocrine system
4.8%
Abnormality of the respiratory system
4.8%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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