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ACAN

Synonyms
AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD
External resources
Summary
This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene.

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
39
Likely pathogenic
2
VUS
8,403
Likely benign
3,740
Benign
2,722

Patient phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on ACAN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.3%
Growth abnormality
26.7%
Abnormality of the musculoskeletal system
23.3%
Abnormality of head or neck
16.7%
Abnormality of the ear
16.7%
Abnormality of the endocrine system
13.3%
Abnormality of the eye
13.3%
Abnormality of the immune system
13.3%
Abnormality of the integument
13.3%
Abnormality of limbs
10%
Abnormality of the cardiovascular system
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the respiratory system
6.7%
Abnormal cellular phenotype
3.3%
Abnormality of blood and blood-forming tissues
3.3%
Constitutional symptom
3.3%
Neoplasm
3.3%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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