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NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) AND Hypertrophic cardiomyopathy 3

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 2, 2001
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:
RCV000013273.27

Allele description [Variation Report for NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)]

NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)

Gene:
TPM1:tropomyosin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)
Other names:
p.V95A:GTT>GCT
HGVS:
  • NC_000015.10:g.63057028T>C
  • NG_007557.1:g.19390T>C
  • NM_000366.6:c.284T>C
  • NM_001018004.2:c.284T>C
  • NM_001018005.2:c.284T>CMANE SELECT
  • NM_001018006.2:c.284T>C
  • NM_001018007.2:c.284T>C
  • NM_001018008.2:c.176T>C
  • NM_001018020.2:c.284T>C
  • NM_001301244.2:c.284T>C
  • NM_001301289.2:c.176T>C
  • NM_001330344.2:c.176T>C
  • NM_001330346.2:c.176T>C
  • NM_001330351.2:c.176T>C
  • NM_001365776.1:c.284T>C
  • NM_001365777.1:c.284T>C
  • NM_001365778.1:c.410T>C
  • NM_001365779.1:c.284T>C
  • NM_001365780.1:c.176T>C
  • NM_001365781.2:c.176T>C
  • NM_001365782.1:c.176T>C
  • NP_000357.3:p.Val95Ala
  • NP_001018004.1:p.Val95Ala
  • NP_001018005.1:p.Val95Ala
  • NP_001018006.1:p.Val95Ala
  • NP_001018007.1:p.Val95Ala
  • NP_001018008.1:p.Val59Ala
  • NP_001018020.1:p.Val95Ala
  • NP_001288173.1:p.Val95Ala
  • NP_001288218.1:p.Val59Ala
  • NP_001317273.1:p.Val59Ala
  • NP_001317275.1:p.Val59Ala
  • NP_001317280.1:p.Val59Ala
  • NP_001352705.1:p.Val95Ala
  • NP_001352706.1:p.Val95Ala
  • NP_001352707.1:p.Val137Ala
  • NP_001352708.1:p.Val95Ala
  • NP_001352709.1:p.Val59Ala
  • NP_001352710.1:p.Val59Ala
  • NP_001352711.1:p.Val59Ala
  • LRG_387t1:c.284T>C
  • LRG_387:g.19390T>C
  • LRG_387p1:p.Val95Ala
  • NC_000015.9:g.63349227T>C
  • NM_000366.5:c.284T>C
  • NM_001018005.1:c.284T>C
  • p.(Val95Ala)
Protein change:
V137A; VAL95ALA
Links:
Leiden Muscular Dystrophy (TPM1): TPM1_00007; OMIM: 191010.0003; dbSNP: rs104894504
NCBI 1000 Genomes Browser:
rs104894504
Molecular consequence:
  • NM_000366.6:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018008.2:c.176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301289.2:c.176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330344.2:c.176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330346.2:c.176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330351.2:c.176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.410T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365780.1:c.176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365781.2:c.176T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365782.1:c.176T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Name:
Hypertrophic cardiomyopathy 3
Synonyms:
Familial hypertrophic cardiomyopathy 3; TPM1-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0007267; MedGen: C1861863; OMIM: 115196

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033520OMIM
no assertion criteria provided
Pathogenic
(Jan 2, 2001) 		germlineliterature only

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

SCV000045881Leiden Muscular Dystrophy (TPM1)
no classification provided
not providedgermlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Molecular epidemiology of hypertrophic cardiomyopathy.

Morita H, DePalma SR, Arad M, McDonough B, Barr S, Duffy C, Maron BJ, Seidman CE, Seidman JG.

Cold Spring Harb Symp Quant Biol. 2002;67:383-8. No abstract available.

PubMed [citation]
PMID:
12858563

Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.

Karibe A, Tobacman LS, Strand J, Butters C, Back N, Bachinski LL, Arai AE, Ortiz A, Roberts R, Homsher E, Fananapazir L.

Circulation. 2001 Jan 2;103(1):65-71.

PubMed [citation]
PMID:
11136687

Details of each submission

From OMIM, SCV000033520.3

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

Description

Karibe et al. (2001) described a large Spanish American family in which multiple members had hypertrophic cardiomyopathy (CMH3; 115196). They found a novel val95-to-ala (V95A) mutation in TPM1 to segregate with the disease phenotype. This mutation was associated with the same mild degree of left ventricular hypertrophy as seen in some CMH1 families harboring specific mutations in MYH7 (160760.0010, 160760.0012, 160760.0001). Penetrance was estimated at 53% on the basis of an abnormal echocardiogram; however, 2 mutation carriers with normal echocardiograms and normal ECGs were only in their mid-thirties at the time of the study. Penetrance could not be accurately assessed by ECG, since 6 older mutation-negative family members had minor T-wave changes. Cumulative survival rates in this family were 73% +/- 10% at 40 years and 32% +/- 13% at 60 years. Expression of mutant and control tropomyosin in a bacterial system allowed a functional assessment of this mutation. An increase in calcium binding and abnormal myosin cycling were observed; both were felt to be important contributors to disease pathogenesis.

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

From Leiden Muscular Dystrophy (TPM1), SCV000045881.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024