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CACNB2

Synonyms
CAB2, CACNLB2, CAVB2, MYSB
External resources
Summary
This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described.

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
22
Likely pathogenic
1
VUS
22,826
Likely benign
6,651
Benign
15,470

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on CACNB2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.9%
Abnormality of the eye
36.8%
Abnormality of the musculoskeletal system
36.8%
Abnormality of head or neck
26.3%
Abnormality of the cardiovascular system
21.1%
Abnormality of the ear
21.1%
Abnormality of the integument
15.8%
Growth abnormality
15.8%
Abnormality of limbs
10.5%
Abnormality of prenatal development or birth
10.5%
Abnormality of the breast
10.5%
Abnormality of the immune system
10.5%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the respiratory system
5.3%
Neoplasm
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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