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NM_152263.4(TPM3):c.505A>G (p.Lys169Glu) 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:
RCV000128702.1

Allele description [Variation Report for NM_152263.4(TPM3):c.505A>G (p.Lys169Glu)]

NM_152263.4(TPM3):c.505A>G (p.Lys169Glu)

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.505A>G (p.Lys169Glu)
HGVS:
  • NC_000001.11:g.154172969T>C
  • NG_008621.1:g.24165A>G
  • NM_001043351.2:c.394A>G
  • NM_001043352.2:c.394A>G
  • NM_001043353.2:c.394A>G
  • NM_001278188.2:c.196A>G
  • NM_001278189.2:c.394A>G
  • NM_001278190.2:c.394A>G
  • NM_001278191.2:c.124A>G
  • NM_001349679.2:c.394A>G
  • NM_001364679.2:c.505A>G
  • NM_001364680.2:c.505A>G
  • NM_001364681.2:c.505A>G
  • NM_001364682.1:c.505A>G
  • NM_001364683.1:c.394A>G
  • NM_152263.4:c.505A>GMANE SELECT
  • NM_153649.4:c.394A>G
  • NP_001036816.1:p.Lys132Glu
  • NP_001036817.1:p.Lys132Glu
  • NP_001036818.1:p.Lys132Glu
  • NP_001265117.1:p.Lys66Glu
  • NP_001265118.1:p.Lys132Glu
  • NP_001265119.1:p.Lys132Glu
  • NP_001265120.1:p.Lys42Glu
  • NP_001336608.1:p.Lys132Glu
  • NP_001351608.1:p.Lys169Glu
  • NP_001351609.1:p.Lys169Glu
  • NP_001351610.1:p.Lys169Glu
  • NP_001351611.1:p.Lys169Glu
  • NP_001351612.1:p.Lys132Glu
  • NP_689476.2:p.Lys169Glu
  • NP_705935.1:p.Lys132Glu
  • LRG_681t1:c.394A>G
  • LRG_681t2:c.505A>G
  • LRG_681t3:c.394A>G
  • LRG_681:g.24165A>G
  • LRG_681p1:p.Lys132Glu
  • LRG_681p2:p.Lys169Glu
  • LRG_681p3:p.Lys132Glu
  • NC_000001.10:g.154145445T>C
  • NM_152263.2:c.505A>G
  • NR_103461.2:n.493A>G
  • P06753:p.Lys169Glu
  • p.(Lys169Glu)
Protein change:
K132E
Links:
UniProtKB: P06753#VAR_070070; dbSNP: rs199474715
NCBI 1000 Genomes Browser:
rs199474715
Molecular consequence:
  • NM_001043351.2:c.394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001043352.2:c.394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001043353.2:c.394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278188.2:c.196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278189.2:c.394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278190.2:c.394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278191.2:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349679.2:c.394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364679.2:c.505A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364680.2:c.505A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364681.2:c.505A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364682.1:c.505A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364683.1:c.394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152263.4:c.505A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153649.4:c.394A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103461.2:n.493A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000172342TPM3 homepage - Leiden Muscular Dystrophy pages
no classification provided
not providednot providednot provided

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

Summary from all submissions

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

Citations

PubMed

Mutations in TPM3 are a common cause of congenital fiber type disproportion.

Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN.

Ann Neurol. 2008 Mar;63(3):329-37. doi: 10.1002/ana.21308.

PubMed [citation]
PMID:
18300303

Details of each submission

From TPM3 homepage - Leiden Muscular Dystrophy pages, SCV000172342.1

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

Last Updated: Jul 29, 2023