ACTC1

This page contains an overview of the genetic variation in the ACTC1 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

ACTC1 gene and transcript details

Gene Name
actin, alpha, cardiac muscle 1

Gene Links
Ensembl: ENSG00000159251 - Locus Reference Genomic: LRG_388

Genomic Location
Chromosome 15 : 35,082,613 - 35,087,009 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (1131 bases)	Protein (377 aa)
	ENST00000290378	ENSP00000290378
	LRG_388t1	LRG_388p1
	NM_005159.4
		P68032

Summary of ACTC1 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00453	0.00064	0.39%
Truncating	0.00091	0.00004	0.09%
Non-Truncating	0.00363	0.00062	0.30%

Based on an analysis of rare variants (MAF<0.0001) in ACTC1 detected in a cohort of 1103 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.00526	0.00064	0.46%
Truncating	0.00000	0.00004	0.00%
Non-Truncating	0.00526	0.00062	0.46%

Based on an analysis of rare variants (MAF<0.0001) in ACTC1 detected in a cohort of 4185 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

ACTC1 variants in ExAC

Details of the protein-altering ACTC1 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

	Total Variants	Combined frequency of rare variants
All Variants	47	0.00059
Truncating	2	0.00002
Missense	24	0.00031
Inframe	0	0.00000
Splice Site	21	0.00027

Rare variants are defined as having a mean allelic frequency of less than 0.0001.