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NM_152263.4(TPM3):c.272G>C (p.Arg91Pro) AND Congenital myopathy with fiber type disproportion

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000034942.3

Allele description [Variation Report for NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)]

NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)

Gene:
TPM3:tropomyosin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)
HGVS:
  • NC_000001.11:g.154176220C>G
  • NG_008621.1:g.20914G>C
  • NM_001043351.2:c.161G>C
  • NM_001043352.2:c.161G>C
  • NM_001043353.2:c.161G>C
  • NM_001278188.2:c.69-3019G>C
  • NM_001278189.2:c.161G>C
  • NM_001278190.2:c.161G>C
  • NM_001278191.2:c.-110G>C
  • NM_001349679.2:c.161G>C
  • NM_001364679.2:c.272G>C
  • NM_001364680.2:c.272G>C
  • NM_001364681.2:c.272G>C
  • NM_001364682.1:c.272G>C
  • NM_001364683.1:c.161G>C
  • NM_152263.4:c.272G>CMANE SELECT
  • NM_153649.4:c.161G>C
  • NP_001036816.1:p.Arg54Pro
  • NP_001036817.1:p.Arg54Pro
  • NP_001036818.1:p.Arg54Pro
  • NP_001265118.1:p.Arg54Pro
  • NP_001265119.1:p.Arg54Pro
  • NP_001336608.1:p.Arg54Pro
  • NP_001351608.1:p.Arg91Pro
  • NP_001351609.1:p.Arg91Pro
  • NP_001351610.1:p.Arg91Pro
  • NP_001351611.1:p.Arg91Pro
  • NP_001351612.1:p.Arg54Pro
  • NP_689476.2:p.Arg91Pro
  • NP_705935.1:p.Arg54Pro
  • LRG_681t1:c.161G>C
  • LRG_681t2:c.272G>C
  • LRG_681t3:c.161G>C
  • LRG_681:g.20914G>C
  • LRG_681p1:p.Arg54Pro
  • LRG_681p2:p.Arg91Pro
  • LRG_681p3:p.Arg54Pro
  • NC_000001.10:g.154148696C>G
  • NM_152263.2:c.272G>C
  • NR_103461.2:n.260G>C
  • P06753:p.Arg91Pro
  • p.(Arg91Pro)
Protein change:
R54P
Links:
UniProtKB: P06753#VAR_071502; dbSNP: rs199474713
NCBI 1000 Genomes Browser:
rs199474713
Molecular consequence:
  • NM_001278191.2:c.-110G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001278188.2:c.69-3019G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001043351.2:c.161G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001043352.2:c.161G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001043353.2:c.161G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278189.2:c.161G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278190.2:c.161G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349679.2:c.161G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364679.2:c.272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364680.2:c.272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364681.2:c.272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364682.1:c.272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364683.1:c.161G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152263.4:c.272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153649.4:c.161G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103461.2:n.260G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Congenital myopathy with fiber type disproportion
Synonyms:
Congenital fiber-type disproportion myopathy; Congenital fiber-type disproportion
Identifiers:
MONDO: MONDO:0009711; MedGen: C0546264; Orphanet: 2020

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000058557GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH.

Hum Mutat. 2010 Feb;31(2):176-83. doi: 10.1002/humu.21157.

PubMed [citation]
PMID:
19953533
PMCID:
PMC2815199

Congenital Fiber-Type Disproportion – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY..

DeChene ET, Kang PB, Beggs AH.

2007 Jan 12 [updated 2013 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

PubMed [citation]
PMID:
20301436

Details of each submission

From GeneReviews, SCV000058557.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 25, 2025