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NM_001613.4(ACTA2):c.708C>T (p.Ser236=) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 14, 2023
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:
RCV003301763.2

Allele description [Variation Report for NM_001613.4(ACTA2):c.708C>T (p.Ser236=)]

NM_001613.4(ACTA2):c.708C>T (p.Ser236=)

Genes:
ACTA2-AS1:ACTA2 antisense RNA 1 [Gene - HGNC]
ACTA2:actin alpha 2, smooth muscle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_001613.4(ACTA2):c.708C>T (p.Ser236=)
HGVS:
  • NC_000010.11:g.88939607G>A
  • NG_011541.1:g.56784C>T
  • NM_001141945.3:c.708C>T
  • NM_001320855.2:c.708C>T
  • NM_001406462.1:c.708C>T
  • NM_001406463.1:c.708C>T
  • NM_001406464.1:c.708C>T
  • NM_001406466.1:c.597C>T
  • NM_001406467.1:c.579C>T
  • NM_001406468.1:c.579C>T
  • NM_001406469.1:c.579C>T
  • NM_001406471.1:c.617-1365C>T
  • NM_001613.4:c.708C>TMANE SELECT
  • NP_001135417.1:p.Ser236=
  • NP_001135417.1:p.Ser236=
  • NP_001307784.1:p.Ser236=
  • NP_001393391.1:p.Ser236=
  • NP_001393392.1:p.Ser236=
  • NP_001393393.1:p.Ser236=
  • NP_001393395.1:p.Ser199=
  • NP_001393396.1:p.Ser193=
  • NP_001393397.1:p.Ser193=
  • NP_001393398.1:p.Ser193=
  • NP_001604.1:p.Ser236=
  • NP_001604.1:p.Ser236=
  • LRG_781t1:c.708C>T
  • LRG_781t2:c.708C>T
  • LRG_781:g.56784C>T
  • LRG_781p1:p.Ser236=
  • LRG_781p2:p.Ser236=
  • NC_000010.10:g.90699364G>A
  • NM_001141945.1:c.708C>T
  • NM_001613.2:c.708C>T
  • NR_125373.1:n.1676G>A
Molecular consequence:
  • NM_001406471.1:c.617-1365C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_125373.1:n.1676G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001141945.3:c.708C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001320855.2:c.708C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406462.1:c.708C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406463.1:c.708C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406464.1:c.708C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406466.1:c.597C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406467.1:c.579C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406468.1:c.579C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406469.1:c.579C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001613.4:c.708C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004002033Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 14, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004002033.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024