ACTC1 |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ACTC1 (HGNC:143) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- actin alpha cardiac muscle 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ACTC
- Alias symbols
- CMD1R
- %HI
- 9.59(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.74(Read more about gnomAD pLI score)
- LOEUF
- 0.48(Read more about gnomAD LOEUF score)
- Cytoband
- 15q14
- Genomic Coordinates
-
GRCh37/hg19: chr15:35082431-35087750 NCBI Ensembl UCSC GRCh38/hg38: chr15:34790230-34795549 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005159.5 ENST00000290378.6 (Read more about MANE Select)
- Function
- Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7363
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/17/2015
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence:
-
PUBMED:
17947298
ACTC1 encodes alpha-cardiac actin. Mutations in ACTC1 were found to be associated with autosomal dominant atrial septal defect (ASD). The authors found a child with ASD and a 17bp truncating deletion in ACTC1, inherited from her father. The father had a subclinical spontaneously closed perimembranous ventricular septal defect.
-
PUBMED:
24503780
This paper reports the results of DCM panel testing of 766 patients over 5 years. In supplemental data, an exon 4 +1 mutation (NM_005159.4(ACTC1): c.616+1G>A) was found in a one year old child with DCM. This SNV is predicted to result in exon skipping, with preservation of the downstream reading frame. The SNV was interpreted by the authors to be likely pathogenic; however, inheritance data was not provided.
HI Evidence Comments:
Heterozygous missense mutations and in-frame codon deletions of ACTC1 are the major types of pathogenic variants found in patients with apical hypertrophic cardiomyopathy and left ventricular non compaction, congenital heart defects and arrhythmia (PMID:17611253, 26061005). Thus far, there are only a few reports of mutations that could be interpreted to support haploinsufficiency of ACTC1 [PMID 1794298, 24503780]; however, the evidence for this remains incomplete. Large deletions or duplications have not been described.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)