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NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 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:
RCV003362662.2

Allele description [Variation Report for NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala)]

NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala)

Genes:
GJD2-DT:GJD2 divergent transcript [Gene - HGNC]
ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala)
Other names:
P164A
HGVS:
  • NC_000015.10:g.34792528G>C
  • NG_007553.1:g.8199C>G
  • NM_005159.4:c.496C>G
  • NM_005159.5:c.496C>GMANE SELECT
  • NP_005150.1:p.Pro166Ala
  • LRG_388t1:c.496C>G
  • LRG_388:g.8199C>G
  • LRG_388p1:p.Pro166Ala
  • NC_000015.9:g.35084729G>C
  • P68032:p.Pro166Ala
Protein change:
P166A; PRO164ALA
Links:
UniProtKB: P68032#VAR_012858; OMIM: 102540.0008; dbSNP: rs267606628
NCBI 1000 Genomes Browser:
rs267606628
Molecular consequence:
  • NM_005159.5:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004071227Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 14, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.

Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L.

J Mol Cell Cardiol. 2000 Sep;32(9):1687-94.

PubMed [citation]
PMID:
10966831

Functional studies of yeast actin mutants corresponding to human cardiomyopathy mutations.

Wong WW, Doyle TC, Cheung P, Olson TM, Reisler E.

J Muscle Res Cell Motil. 2001;22(8):665-74.

PubMed [citation]
PMID:
12222827
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV004071227.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.P166A variant (also known as c.496C>G), located in coding exon 3 of the ACTC1 gene, results from a C to G substitution at nucleotide position 496. The proline at codon 166 is replaced by alanine, an amino acid with highly similar properties. This variant (also referred to as Pro164Ala) occurred de novo in a case with pediatric onset hypertrophic cardiomyopathy (Olson TM et al. J Mol Cell Cardiol, 2000 Sep;32:1687-94). This variant has also been detected in a biobank cohort not selected for the presence of cardiovascular disease; however, clinical details were limited (Wright CF et al. Am J Hum Genet. 2019 Feb;104(2):275-286). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024