NM_001018005.1(TPM1):c.160G>A (p.Glu54Lys) AND Dilated cardiomyopathy 1Y

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2001)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000013274.22

Allele description [Variation Report for NM_001018005.1(TPM1):c.160G>A (p.Glu54Lys)]

NM_001018005.1(TPM1):c.160G>A (p.Glu54Lys)

Gene:
TPM1:tropomyosin 1 (alpha) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_001018005.1(TPM1):c.160G>A (p.Glu54Lys)
Other names:
p.E54K:GAA>AAA
HGVS:
  • NC_000015.10:g.63044072G>A
  • NG_007557.1:g.6434G>A
  • NM_001018005.1:c.160G>A
  • NM_001018007.1:c.240+241G>A
  • NP_001018005.1:p.Glu54Lys
  • NC_000015.9:g.63336271G>A
  • P09493:p.Glu54Lys
  • p.(Glu54Lys)
Protein change:
E54K; GLU54LYS
Links:
Leiden Muscular Dystrophy (TPM1): TPM1_00002; UniProtKB: P09493#VAR_043987; OMIM: 191010.0004; dbSNP: 104894505
NCBI 1000 Genomes Browser:
rs104894505
Molecular consequence:
  • NM_001018007.1:c.240+241G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018005.1:c.160G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
has functional consequence

Condition(s)

Name:
Dilated cardiomyopathy 1Y (CMD1Y)
Identifiers:
MedGen: C2678476; Orphanet: 154; Orphanet: 54260; OMIM: 611878
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
SCV000033521OMIMno assertion criteria providedPathogenic
(Apr 1, 2001)
germlineliterature only

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

SCV000045876Leiden Muscular Dystrophy (TPM1)no assertion providednot providedgermlinecuration

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

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.

Olson TM, Kishimoto NY, Whitby FG, Michels VV.

J Mol Cell Cardiol. 2001 Apr;33(4):723-32.

PubMed [citation]
PMID:
11273725

Details of each submission

From OMIM, SCV000033521.1

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

Description

In a 27-year-old man with dilated cardiomyopathy (611878) who died while awaiting cardiac transplantation, Olson et al. (2001) identified heterozygosity for a G-A transition in exon 2 of the TPM1 gene, resulting in a glu54-to-lys (E54K) substitution at a highly conserved residue. The mutation was not found in 348 unrelated CMD patients or 160 unrelated controls.

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

From Leiden Muscular Dystrophy (TPM1), SCV000045876.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2017