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NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala) AND Hypertrophic cardiomyopathy 11

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000019995.28

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:
Hypertrophic cardiomyopathy 11
Synonyms:
Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040293OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2000) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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

Details of each submission

From OMIM, SCV000040293.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 12-year-old boy with hypertrophic cardiomyopathy-11 (CMH11; 612098), Olson et al. (2000) identified heterozygosity for a C-G transversion in exon 2 of the ACTC1 gene, resulting in a pro164-to-ala (P164A) substitution at a highly conserved residue. The patient was diagnosed with CMH at 17 months of age due to syncopal episodes. He later had occasional episodes of chest pain, dyspnea, and near-syncope, and underwent insertion of a pacemaker. Cardiac evaluation revealed hypertrophy of the septum and left ventricular apex. His unaffected parents did not carry the mutation, nor was it found in 150 unrelated controls.

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

Last Updated: May 1, 2024