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NM_152263.4(TPM3):c.521A>C (p.Glu174Ala) AND not provided

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:
RCV000128703.1

Allele description [Variation Report for NM_152263.4(TPM3):c.521A>C (p.Glu174Ala)]

NM_152263.4(TPM3):c.521A>C (p.Glu174Ala)

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.521A>C (p.Glu174Ala)
HGVS:
  • NC_000001.11:g.154172953T>G
  • NG_008621.1:g.24181A>C
  • NM_001043351.2:c.410A>C
  • NM_001043352.2:c.410A>C
  • NM_001043353.2:c.410A>C
  • NM_001278188.2:c.212A>C
  • NM_001278189.2:c.410A>C
  • NM_001278190.2:c.410A>C
  • NM_001278191.2:c.140A>C
  • NM_001349679.2:c.410A>C
  • NM_001364679.2:c.521A>C
  • NM_001364680.2:c.521A>C
  • NM_001364681.2:c.521A>C
  • NM_001364682.1:c.521A>C
  • NM_001364683.1:c.410A>C
  • NM_152263.4:c.521A>CMANE SELECT
  • NM_153649.4:c.410A>C
  • NP_001036816.1:p.Glu137Ala
  • NP_001036817.1:p.Glu137Ala
  • NP_001036818.1:p.Glu137Ala
  • NP_001265117.1:p.Glu71Ala
  • NP_001265118.1:p.Glu137Ala
  • NP_001265119.1:p.Glu137Ala
  • NP_001265120.1:p.Glu47Ala
  • NP_001336608.1:p.Glu137Ala
  • NP_001351608.1:p.Glu174Ala
  • NP_001351609.1:p.Glu174Ala
  • NP_001351610.1:p.Glu174Ala
  • NP_001351611.1:p.Glu174Ala
  • NP_001351612.1:p.Glu137Ala
  • NP_689476.2:p.Glu174Ala
  • NP_705935.1:p.Glu137Ala
  • LRG_681t1:c.410A>C
  • LRG_681t2:c.521A>C
  • LRG_681t3:c.410A>C
  • LRG_681:g.24181A>C
  • LRG_681p1:p.Glu137Ala
  • LRG_681p2:p.Glu174Ala
  • LRG_681p3:p.Glu137Ala
  • NC_000001.10:g.154145429T>G
  • NM_152263.2:c.521A>C
  • NR_103461.2:n.509A>C
  • P06753:p.Glu174Ala
  • p.(Glu174Ala)
Protein change:
E137A
Links:
UniProtKB: P06753#VAR_071506; dbSNP: rs199474716
NCBI 1000 Genomes Browser:
rs199474716
Molecular consequence:
  • NM_001043351.2:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001043352.2:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001043353.2:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278188.2:c.212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278189.2:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278190.2:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278191.2:c.140A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349679.2:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364679.2:c.521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364680.2:c.521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364681.2:c.521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364682.1:c.521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364683.1:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152263.4:c.521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153649.4:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103461.2:n.509A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172343TPM3 homepage - Leiden Muscular Dystrophy pages
no classification provided
not providedunknownnot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F.

Neuromuscul Disord. 2010 Dec;20(12):796-800. doi: 10.1016/j.nmd.2010.07.274. Epub 2010 Oct 14.

PubMed [citation]
PMID:
20951040

Details of each submission

From TPM3 homepage - Leiden Muscular Dystrophy pages, SCV000172343.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022