ACTA2-AS1

ACTA2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:88932390-88940820

Links

ENSG00000180139 ∙ NCBI:100132116 ∙ ∙ HGNC:45169 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACTA2-AS1 gene.

• Aortic aneurysm, familial thoracic 6 (99 variants)
• Familial thoracic aortic aneurysm and aortic dissection (85 variants)
• not provided (59 variants)
• Multisystemic smooth muscle dysfunction syndrome (10 variants)
• not specified (7 variants)
• Moyamoya disease (3 variants)
• Moyamoya disease 5 (3 variants)
• Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5;Aortic aneurysm, familial thoracic 6 (2 variants)
• Isolated thoracic aortic aneurysm (2 variants)
• ACTA2-related condition (1 variants)
• Inborn genetic diseases (1 variants)
• Aneurysm of descending aorta;Arterial tortuosity (1 variants)
• ACTA2-Related Disorders (1 variants)
• Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTA2-AS1 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4	2		6
Total	0	0	4	2	0

Highest pathogenic variant AF is 0.00000657289

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP