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MYBPC3

Synonyms
CMD1MM, CMH4, FHC, LVNC10, MYBP-C, cMyBP-C
External resources
Summary
MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy.

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
120
Likely pathogenic
14
VUS
12,247
Likely benign
4,005
Benign
3,347

Patient phenotypes

Proportions of phenotypes among 134 patients carrying pathogenic or likely pathogenic variants on MYBPC3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
80.6%
Abnormality of the nervous system
11.2%
Abnormality of the musculoskeletal system
6.7%
Abnormality of head or neck
5.2%
Abnormality of the ear
3.7%
Abnormality of the eye
3.7%
Abnormality of limbs
3%
Abnormality of the genitourinary system
3%
Growth abnormality
3%
Abnormality of the integument
2.2%
Abnormality of blood and blood-forming tissues
0.7%
Abnormality of the endocrine system
0.7%
Abnormality of the immune system
0.7%
Neoplasm
0.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
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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