Gene

ACTC1

actin alpha cardiac muscle 1

Cytogenetic location: 15q14
Coordinates: Chromosome 15: 34,790,230–34,795,549 (GRCh38)
Exons: 7 exons across 5.3 kb
Protein: 377 amino acids
Inheritance: Autosomal dominant
Also known as: CMD1R
Previous symbols: ACTC
MANE Select transcript: ENST00000290378.6NM_005159.5
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

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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.
  - ClinGen rates the link moderate
  - 2 GenCC submitters rate 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.
Inherited Congenital Heart Defects
- Atrial Septal Defect
  A hole between the upper chambers of the heart; inherited forms are caused by genes such as NKX2-5, GATA4, TBX20, MYH6 and ACTC1, and NKX2-5 forms also carry a risk of progressive heart block.
  - 2 GenCC submitters rate it definitive or strong
  What knowing changes
  Knowing about it supports heart imaging and, for NKX2-5, regular ECG checks.
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.
  - ClinGen rates the link moderate
  - 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
  - 5 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 ACTC1 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
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 1.4 kb of the gene's 5.3 kb; 1,134 of those bases code for the protein.

How a genome test reads ACTC1

positions in ACTC1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 5.3 kb of ACTC1, introns included, not only the 1.4 kb of exons.

Variants with a page (5)

The ACTC1 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
E101K	c.301G>A	Exon 3	34,793,398	Pathogenic	3 stars out of 4 reviewed by expert panel
I284F	c.850A>T	Exon 6	34,791,254	Likely pathogenic	3 stars out of 4 reviewed by expert panel
D26N	c.76G>A	Exon 2	34,794,733	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
R212H	c.635G>A	Exon 5	34,792,263	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
R314H	c.941G>A	Exon 6	34,791,163	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

Traits linked to ACTC1

The Human Phenotype Ontology lists these as features of the rare conditions ACTC1 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the cardiovascular system

Show 35 more traits

Abnormality of the respiratory system

Abnormality of the musculoskeletal system

Constitutional symptom

Abnormality of the immune system

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.). ACTC1 gene: actin alpha cardiac muscle 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/actc1

Vancouver

Dante Labs. ACTC1 gene: actin alpha cardiac muscle 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/actc1

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