NM_001613.4(ACTA2):c.454+1del AND Descending aortic dissection

Germline classification:: Pathogenic (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002260546.1

Allele description [Variation Report for NM_001613.4(ACTA2):c.454+1del]

NM_001613.4(ACTA2):c.454+1del

Gene:

ACTA2:actin alpha 2, smooth muscle [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_001613.4(ACTA2):c.454+1del

HGVS:

NC_000010.11:g.88941785del
NG_011541.1:g.54607del
NM_001141945.3:c.454+1del
NM_001320855.2:c.454+1del
NM_001406462.1:c.454+1del
NM_001406463.1:c.454+1del
NM_001406464.1:c.454+1del
NM_001406466.1:c.343+1del
NM_001406467.1:c.325+1del
NM_001406468.1:c.325+1del
NM_001406469.1:c.325+1del
NM_001406471.1:c.454+1del
NM_001613.4:c.454+1delMANE SELECT
LRG_781:g.54607del
NC_000010.10:g.90701542del
NM_001613.4:c.454+1delGMANE SELECT

Links:

dbSNP: rs2133256226

NCBI 1000 Genomes Browser:

rs2133256226

Molecular consequence:

NM_001141945.3:c.454+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001320855.2:c.454+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406462.1:c.454+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406463.1:c.454+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406464.1:c.454+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406466.1:c.343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406467.1:c.325+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406468.1:c.325+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406469.1:c.325+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406471.1:c.454+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001613.4:c.454+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]

Observations:

Condition(s)

Name:: Descending aortic dissection
Identifiers:: MedGen: C4022878; Human Phenotype Ontology: HP:0012499

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002540216	Tissue and Cell Biology Laboratory, Universidade Estadual do Norte Fluminense Darcy Ribeiro	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002540216

Tissue and Cell Biology Laboratory, Universidade Estadual do Norte Fluminense Darcy Ribeiro

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Tissue and Cell Biology Laboratory, Universidade Estadual do Norte Fluminense Darcy Ribeiro, SCV002540216.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (1)

Description

This is a rare variant in a canonical donor splice site, which is predicted to impair the mRNA splicing. This variant is absent in the GnomAD database and was not reported in any publication. ACTA2 is a gene associated with multiple cases of aneurysms and thoracic aortic dissection with predominance of missense variants (PMID: 30071989). The ACTA2 c.454+1delG was classified as pathogenic according to the ACMG criteria (PVS1, PM2, PP3).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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