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NM_001613.4(ACTA2):c.142G>T (p.Gly48Ter) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2015
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:
RCV000208504.3

Allele description [Variation Report for NM_001613.4(ACTA2):c.142G>T (p.Gly48Ter)]

NM_001613.4(ACTA2):c.142G>T (p.Gly48Ter)

Gene:
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.142G>T (p.Gly48Ter)
HGVS:
  • NC_000010.11:g.88947374C>A
  • NG_011541.1:g.49017G>T
  • NM_001141945.3:c.142G>T
  • NM_001320855.2:c.142G>T
  • NM_001406462.1:c.142G>T
  • NM_001406463.1:c.142G>T
  • NM_001406464.1:c.142G>T
  • NM_001406466.1:c.142G>T
  • NM_001406471.1:c.142G>T
  • NM_001613.4:c.142G>TMANE SELECT
  • NP_001135417.1:p.Gly48Ter
  • NP_001135417.1:p.Gly48Ter
  • NP_001135417.1:p.Gly48Ter
  • NP_001307784.1:p.Gly48Ter
  • NP_001307784.1:p.Gly48Ter
  • NP_001393391.1:p.Gly48Ter
  • NP_001393392.1:p.Gly48Ter
  • NP_001393393.1:p.Gly48Ter
  • NP_001393395.1:p.Gly48Ter
  • NP_001393400.1:p.Gly48Ter
  • NP_001604.1:p.Gly48Ter
  • NP_001604.1:p.Gly48Ter
  • LRG_781t1:c.142G>T
  • LRG_781t2:c.142G>T
  • LRG_781:g.49017G>T
  • LRG_781p1:p.Gly48Ter
  • LRG_781p2:p.Gly48Ter
  • NC_000010.10:g.90707131C>A
  • NM_001141945.1:c.142G>T
  • NM_001141945.2:c.142G>T
  • NM_001320855.1:c.142G>T
  • NM_001613.2:c.142G>T
Protein change:
G48*
Links:
dbSNP: rs869025351
NCBI 1000 Genomes Browser:
rs869025351
Molecular consequence:
  • NM_001141945.3:c.142G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320855.2:c.142G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406462.1:c.142G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406463.1:c.142G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406464.1:c.142G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406466.1:c.142G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406471.1:c.142G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001613.4:c.142G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV000263753Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Uncertain significance
(Sep 29, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000263753.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023