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NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 15, 2016
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:
RCV000181021.5

Allele description [Variation Report for NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu)]

NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu)

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.446G>T (p.Arg149Leu)
Other names:
p.R149L:CGC>CTC
HGVS:
  • NC_000010.11:g.88941793C>A
  • NG_011541.1:g.54598G>T
  • NM_001141945.3:c.446G>T
  • NM_001320855.2:c.446G>T
  • NM_001406462.1:c.446G>T
  • NM_001406463.1:c.446G>T
  • NM_001406464.1:c.446G>T
  • NM_001406466.1:c.335G>T
  • NM_001406467.1:c.317G>T
  • NM_001406468.1:c.317G>T
  • NM_001406469.1:c.317G>T
  • NM_001406471.1:c.446G>T
  • NM_001613.4:c.446G>TMANE SELECT
  • NP_001135417.1:p.Arg149Leu
  • NP_001135417.1:p.Arg149Leu
  • NP_001135417.1:p.Arg149Leu
  • NP_001307784.1:p.Arg149Leu
  • NP_001307784.1:p.Arg149Leu
  • NP_001393391.1:p.Arg149Leu
  • NP_001393392.1:p.Arg149Leu
  • NP_001393393.1:p.Arg149Leu
  • NP_001393395.1:p.Arg112Leu
  • NP_001393396.1:p.Arg106Leu
  • NP_001393397.1:p.Arg106Leu
  • NP_001393398.1:p.Arg106Leu
  • NP_001393400.1:p.Arg149Leu
  • NP_001604.1:p.Arg149Leu
  • NP_001604.1:p.Arg149Leu
  • LRG_781t1:c.446G>T
  • LRG_781t2:c.446G>T
  • LRG_781:g.54598G>T
  • LRG_781p1:p.Arg149Leu
  • LRG_781p2:p.Arg149Leu
  • NC_000010.10:g.90701550C>A
  • NM_001141945.1:c.446G>T
  • NM_001141945.2:c.446G>T
  • NM_001320855.1:c.446G>T
  • NM_001613.2:c.446G>T
Protein change:
R106L
Links:
dbSNP: rs794728025
NCBI 1000 Genomes Browser:
rs794728025
Molecular consequence:
  • NM_001141945.3:c.446G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320855.2:c.446G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406462.1:c.446G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406463.1:c.446G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406464.1:c.446G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406466.1:c.335G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406467.1:c.317G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406468.1:c.317G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406469.1:c.317G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406471.1:c.446G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001613.4:c.446G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000233296GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Dec 15, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000233296.13

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

Description

p.Arg149Leu (CGC>CTC): c.446 G>T in exon 5 of the ACTA2 gene (NM_001613.2)While the R149L mutation in the ACTA2 gene has not been reported to our knowledge, a mutation affecting this same residue, R149C, has been reported in association with TAAD (Morisaki H et al., 2009; Guo DC et al., 2009). Additionally, mutations in nearby residues (Y145C, V154A) have been reported in association with TAAD, further supporting the functional importance of this residue and this region of the protein. R149L results in a non-conservative amino acid substitution of Laucine at a position that is highly conserved across species. In silico analysis predicts R149L is damaging to the protein structure/function. Furthermore, R149L was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, R149L in the ACTA2 gene is interpreted as a likely disease-causing mutation. The variant is found in TAAD panel(s).

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

Last Updated: Feb 28, 2024