chr10:88941309:C>T Detail (hg38) (ACTA2, STAMBPL1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr10:90,701,066-90,701,066 View the variant detail on this assembly version.
hg38	chr10:88,941,309-88,941,309

HGVS

ACTA2
STAMBPL1

Type	Transcript	Protein
RefSeq	NM_001141945.2:c.536G>A	NP_001135417.1:p.Arg179His
	NM_001320855.1:c.536G>A	NP_001307784.1:p.Arg179His
	NM_001613.2:c.536G>A	NP_001604.1:p.Arg179His
Ensemble	ENST00000713601.1:c.407G>A	ENST00000713601.1:p.Arg136His
	ENST00000224784.10:c.536G>A	ENST00000224784.10:p.Arg179His
	ENST00000415557.2:c.536G>A	ENST00000415557.2:p.Arg179His
	ENST00000458159.6:c.536G>A	ENST00000458159.6:p.Arg179His
	ENST00000713597.1:c.536G>A	ENST00000713597.1:p.Arg179His
	ENST00000713598.1:c.578G>A	ENST00000713598.1:p.Arg193His
	ENST00000713599.1:c.536G>A	ENST00000713599.1:p.Arg179His
	ENST00000713600.1:c.425G>A	ENST00000713600.1:p.Arg142His
	ENST00000713602.1:c.536G>A	ENST00000713602.1:p.Arg179His

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000371927.7:c.1254+18873C>T

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

ACTA2
STAMBPL1

Type	Database	ID	Link
Gene	MIM	102620	OMIM
	HGNC	130	HGNC
	Ensembl	ENSG00000107796	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	612352	OMIM
	HGNC	24105	HGNC
	Ensembl	ENSG00000138134	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-11-03	criteria provided, multiple submitters, no conflicts	Multisystemic smooth muscle dysfunction syndrome	de novo germline unknown	Detail
Pathogenic		criteria provided, single submitter	Moyamoya disease 5	germline	Detail
Pathogenic	2020-01-13	criteria provided, multiple submitters, no conflicts	Familial thoracic aortic aneurysm and aortic dissection	germline	Detail
Pathogenic	2021-03-31	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-03-29	criteria provided, multiple submitters, no conflicts	Aortic aneurysm, familial thoracic 6	germline	Detail
Pathogenic	2016-06-09	no assertion criteria provided	alterations of great arteries and veins,Connective tissue disorder	unknown	Detail
Pathogenic	2016-06-09	no assertion criteria provided	alterations of great arteries and veins,Connective tissue disorder	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Aortic aneurysm, familial thoracic 6,Moyamoya disease 5,Multisystemic smooth muscle dysfunction syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Aortic aneurysm, familial thoracic 6,Moyamoya disease 5,Multisystemic smooth muscle dysfunction syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Aortic aneurysm, familial thoracic 6,Moyamoya disease 5,Multisystemic smooth muscle dysfunction syndrome	unknown	Detail
Pathogenic	2023-12-11	criteria provided, single submitter	ACTA2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Arteriopathic disease	Cerebral arteriopathy associated with Arg179His ACTA2 mutation.	BeFree	24293535	Detail
0.240	Moyamoya disease 5	NA	CLINVAR		Detail
0.002	Vascular Diseases	Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the A...	BeFree	22831780	Detail
0.360	Multisystemic smooth muscle dysfunction syndrome	NA	CLINVAR		Detail
0.360	Aortic aneurysm, familial thoracic 6	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND Multisystemic smooth muscle dysfunction syndrome	ClinVar	Detail
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND Moyamoya disease 5	ClinVar	Detail
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND Familial thoracic aortic aneurysm and aortic dissectio...	ClinVar	Detail
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND not provided	ClinVar	Detail
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND Aortic aneurysm, familial thoracic 6	ClinVar	Detail
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND multiple conditions	ClinVar	Detail
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND multiple conditions	ClinVar	Detail
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND multiple conditions	ClinVar	Detail
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND multiple conditions	ClinVar	Detail
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND multiple conditions	ClinVar	Detail
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND ACTA2-related disorder	ClinVar	Detail
Cerebral arteriopathy associated with Arg179His ACTA2 mutation.	DisGeNET	Detail
NA	DisGeNET	Detail
Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the Arg179His mutation is...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs387906592 dbSNP
Genome: hg38
Position: chr10:88,941,309-88,941,309
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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