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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			4	2		6
splice region						0
non coding	3	8	101	56	9	177
Total	3	8	105	58	9

Highest pathogenic variant AF is 0.00000657

Variants in ACTA2-AS1

This is a list of pathogenic ClinVar variants found in the ACTA2-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-88935012-C-T			Likely benign (Jul 08, 2018)
10-88935036-G-T			Benign (Jun 14, 2018)
10-88935065-C-T		Familial thoracic aortic aneurysm and aortic dissection • Multisystemic smooth muscle dysfunction syndrome • Moyamoya disease	Likely benign (Jun 14, 2016)
10-88935101-A-G		Multisystemic smooth muscle dysfunction syndrome • Moyamoya disease • Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)
10-88935118-C-A		Aortic aneurysm, familial thoracic 6 • Multisystemic smooth muscle dysfunction syndrome	Conflicting classifications of pathogenicity (Jan 12, 2018)
10-88935119-G-C		Multisystemic smooth muscle dysfunction syndrome • Aortic aneurysm, familial thoracic 6	Uncertain significance (Jan 13, 2018)
10-88935180-T-C		Multisystemic smooth muscle dysfunction syndrome • Aortic aneurysm, familial thoracic 6	Uncertain significance (Jan 13, 2018)
10-88935184-CAGTTGTGTGCTAGAGACAGAGAGGAGCAGGAAA-C		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 26, 2023)
10-88935195-T-A		Multisystemic smooth muscle dysfunction syndrome • Moyamoya disease • Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)
10-88935218-G-A		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jul 13, 2020)
10-88935220-G-A		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Aug 15, 2023)
10-88935224-T-C		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Apr 01, 2019)
10-88935225-A-G		Aortic aneurysm, familial thoracic 6 • Familial thoracic aortic aneurysm and aortic dissection • ACTA2-related disorder	Uncertain significance (May 18, 2023)
10-88935226-G-A		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Nov 20, 2023)
10-88935230-CA-C		Aortic aneurysm, familial thoracic 6	Uncertain significance (Sep 02, 2021)
10-88935236-C-T		Aortic aneurysm, familial thoracic 6 • Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Feb 05, 2024)
10-88935237-G-A		Familial thoracic aortic aneurysm and aortic dissection • Aortic aneurysm, familial thoracic 6	Uncertain significance (Dec 01, 2023)
10-88935242-A-G		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jul 10, 2023)
10-88935245-A-G		Aortic aneurysm, familial thoracic 6 • Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (May 12, 2024)
10-88935245-A-T		Aortic aneurysm, familial thoracic 6	Uncertain significance (Dec 22, 2023)
10-88935248-G-C		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 11, 2024)
10-88935248-G-T		Aortic aneurysm, familial thoracic 6	Uncertain significance (Jun 13, 2023)
10-88935255-C-A		Aortic aneurysm, familial thoracic 6	Uncertain significance (Sep 30, 2023)
10-88935255-C-T		Aortic aneurysm, familial thoracic 6 • Familial thoracic aortic aneurysm and aortic dissection	Conflicting classifications of pathogenicity (Jun 07, 2024)
10-88935256-G-A		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Mar 28, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP