MYBPC3 gene: myosin binding protein C3

Curated reports relevant to this gene

Dilated Cardiomyopathy
- Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.
  - 1 GenCC submitter rates it definitive or strong
  What knowing changes
  Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.
Left Ventricular Noncompaction
- A heart muscle condition with a thick, spongy inner layer of the left ventricle, linked to sarcomere genes such as MYH7, ACTC1, TNNT2, TPM1 and MYBPC3, and to LDB3, PRDM16 and MIB1.
  - 1 GenCC submitter rates it definitive or strong
  What knowing changes
  Knowing about it supports heart imaging and rhythm monitoring and screening of relatives.

Broader groupings

Hypertrophic Cardiomyopathy
- Autosomal dominant
  One of 62 genes linked to it
  A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

Inheritance

Autosomal dominant: One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How MYBPC3 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard
Variants with a page

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.2 kb of the gene's 21.3 kb; 3,825 of those bases code for the protein.

How a genome test reads MYBPC3

782

positions in MYBPC3 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (0.1%) falls in a region short reads find hard.

Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 21.3 kb of MYBPC3, introns included, not only the 4.2 kb of exons.

Variants with a page (212)

The MYBPC3 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
R495G	c.1483C>G	Exon 17	47,342,719	Likely pathogenic	3 stars out of 4 reviewed by expert panel
R495Q	c.1484G>A	Exon 17	47,342,718	Likely pathogenic	3 stars out of 4 reviewed by expert panel
R495W	c.1483C>T	Exon 17	47,342,719	Likely pathogenic	3 stars out of 4 reviewed by expert panel
R502Q	c.1505G>A	Exon 17	47,342,697	Pathogenic	3 stars out of 4 reviewed by expert panel
A105Pfs*54	c.313del	Exon 3	47,350,594	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A364T	c.1090G>A	Exon 12	47,346,207	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A482Gfs*49	c.1444dup	Exon 16	47,342,842	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.25+1G>A		Intron 1	47,352,622	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.406+1G>A		Intron 3	47,350,501	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.407-2A>G		Intron 3	47,350,114	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 212 MYBPC3 variants →

Traits linked to MYBPC3

The Human Phenotype Ontology lists these as features of the rare conditions MYBPC3 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the cardiovascular system

Show 18 more traits

Abnormality of the respiratory system

Abnormality of the musculoskeletal system

Abnormality of the digestive system

Constitutional symptom

Laboratory abnormality

Abnormality of blood and blood-forming tissues

Thromboembolic stroke

Abnormality of the ear

Sensorineural hearing impairment

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MYBPC3 gene: myosin binding protein C3. Retrieved 16 October 2026, from https://dantelabs.com/genes/mybpc3

Vancouver

Dante Labs. MYBPC3 gene: myosin binding protein C3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mybpc3