NM_005159.4(ACTC1):c.941G>A (p.Arg314His) AND Dilated cardiomyopathy 1R

Clinical significance:Pathogenic (Last evaluated: May 1, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019988.26

Allele description [Variation Report for NM_005159.4(ACTC1):c.941G>A (p.Arg314His)]

NM_005159.4(ACTC1):c.941G>A (p.Arg314His)

Genes:
ACTC1:actin, alpha, cardiac muscle 1 [Gene - OMIM - HGNC]
LOC101928174:uncharacterized LOC101928174 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_005159.4(ACTC1):c.941G>A (p.Arg314His)
HGVS:
  • NC_000015.10:g.34791163C>T
  • NG_007553.1:g.9564G>A
  • NM_005159.4:c.941G>A
  • NP_005150.1:p.Arg314His
  • LRG_388t1:c.941G>A
  • LRG_388:g.9564G>A
  • LRG_388p1:p.Arg314His
  • NC_000015.9:g.35083364C>T
Protein change:
R312H; ARG312HIS
Links:
OMIM: 102540.0001; dbSNP: 121912673
NCBI 1000 Genomes Browser:
rs121912673
Molecular consequence:
  • NM_005159.4:c.941G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1R (CMD1R)
Identifiers:
MedGen: C3150681; Orphanet: 154; Orphanet: 54260; OMIM: 613424
Age of onset:
All ages
Prevalence:
1-9 / 100 000 154

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040286OMIMno assertion criteria providedPathogenic
(May 1, 1998)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT.

Science. 1998 May 1;280(5364):750-2.

PubMed [citation]
PMID:
9563954

Details of each submission

From OMIM, SCV000040286.1

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

Description

In a 36-year-old mother and 2 daughters, aged 5 and 2 years, of German ancestry who had dilated cardiomyopathy (CMD1R; 613424), Olson et al. (1998) found a G-to-A substitution in codon 312 in exon 5 of the ACTC gene, resulting in an arg312-to-his (R312H) amino acid substitution. A 15-year-old son likewise had inherited the mutation but had not developed dilated cardiomyopathy.

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

Last Updated: Jun 7, 2016