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NM_001613.4(ACTA2):c.864T>C (p.Asp288=) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Aug 15, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001526302.6

Allele description [Variation Report for NM_001613.4(ACTA2):c.864T>C (p.Asp288=)]

NM_001613.4(ACTA2):c.864T>C (p.Asp288=)

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.864T>C (p.Asp288=)
HGVS:
  • NC_000010.11:g.88938187A>G
  • NG_011541.1:g.58204T>C
  • NM_001141945.3:c.864T>C
  • NM_001320855.2:c.864T>C
  • NM_001406462.1:c.864T>C
  • NM_001406463.1:c.864T>C
  • NM_001406464.1:c.864T>C
  • NM_001406466.1:c.753T>C
  • NM_001406467.1:c.735T>C
  • NM_001406468.1:c.735T>C
  • NM_001406469.1:c.735T>C
  • NM_001406471.1:c.672T>C
  • NM_001613.4:c.864T>CMANE SELECT
  • NP_001135417.1:p.Asp288=
  • NP_001135417.1:p.Asp288=
  • NP_001307784.1:p.Asp288=
  • NP_001393391.1:p.Asp288=
  • NP_001393392.1:p.Asp288=
  • NP_001393393.1:p.Asp288=
  • NP_001393395.1:p.Asp251=
  • NP_001393396.1:p.Asp245=
  • NP_001393397.1:p.Asp245=
  • NP_001393398.1:p.Asp245=
  • NP_001393400.1:p.Asp224=
  • NP_001604.1:p.Asp288=
  • NP_001604.1:p.Asp288=
  • LRG_781t1:c.864T>C
  • LRG_781t2:c.864T>C
  • LRG_781:g.58204T>C
  • LRG_781p1:p.Asp288=
  • LRG_781p2:p.Asp288=
  • NC_000010.10:g.90697944A>G
  • NM_001141945.1:c.864T>C
  • NM_001613.2:c.864T>C
  • NM_001613.3:c.864T>C
Links:
dbSNP: rs2133246505
NCBI 1000 Genomes Browser:
rs2133246505
Molecular consequence:
  • NM_001141945.3:c.864T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001320855.2:c.864T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406462.1:c.864T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406463.1:c.864T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406464.1:c.864T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406466.1:c.753T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406467.1:c.735T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406468.1:c.735T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406469.1:c.735T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406471.1:c.672T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001613.4:c.864T>C - synonymous variant - [Sequence Ontology: SO:0001819]
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001736616Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Nov 23, 2020) 		germlineclinical testing

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

SCV004840615All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Benign
(Aug 15, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided108544not providedclinical 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 Color Diagnostics, LLC DBA Color Health, SCV001736616.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004840615.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024