CPT2 M647V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

CPT2 M647V

(CPT2 Met647Val)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr1:53679229: 16.7% (1793/10758) in EVS
  • G @ chr1:53451816: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 16.7% (1793/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr1:53679229

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr1:53679229

 

 

 

 

 

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr1:53679229

 

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr1:53451817

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr1:53451817

 

Other external references
 

    dbSNP
  • rs1799822
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CPT2 gene
    Carnitine Palmitoyltransferase IA Deficiency
    Carnitine Palmitoyltransferase II Deficiency
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CPT2
    PolyPhen-2
  • Score: 0.462 (possibly damaging)
    Web search results (24 hits -- see all)
  • Keep the change
    The other two CPT2 polymorphisms--V368I and M647V--have been found in general populations. ... List of 20 CPT2 mutations with references, mutation type and links to ...
    www.spiralnotebook.org/keepthechange/index.html
  • ASSOCIATION OF MEDICALLY UNEXPLAINED FATIGUE WITH ACE ...
    carnitine palmitoyltransferase; CPT2, carnitine palmitoyltransferase II gene; ... common polymorphisms in the CPT2 gene (V368I. and M647V) were detected by ASA as described. ...
    www.cfids-cab.org/cfs-inform/Genes/vladutiu.natelson04.pdf
  • Mendelian Inheritance in Man Document Reader
    It is now clear that the gene mapped to chromosome 1 was CPT2. ... Analysis of the V368I and M647V polymorphisms in the CPT2 gene showed that the mutant ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+600650
  • A variable myopathy associated with heterozygosity for the ...
    Analysis of the V368I and M647V polymorphisms in the CPT2 gene showed that the mutant ... While the variability in CPT2 gene haplotypes may contribute to the ...
    www.ncbi.nlm.nih.gov/pubmed/10873395
  • Two CPT2 mutations in three Japanese patients with carnitine ...
    Two CPT2 mutations in three Japanese patients with carnitine ... V368I and M647V, allowed normal Japanese alleles to be classified into five haplotypes. ...
    www.ncbi.nlm.nih.gov/pubmed/9600456
  • Method of Diagnosing the Risk of Thermolabile Phenotype ...
    The invention relates to a method of diagnosing a risk of a thermolabile phenotype disease including or caused by influenza encephalitis/encephalopathy, Reye's ...
    www.freepatentsonline.com/y2008/0187918.html
  • Result Citations for pg07
    Extra features: it is possible to save/load manual classifications (assigned by ... To use this feature, save a local copy of this file (e.g. using "Save ...
    mscanner.stanford.edu/static/sample/.../pg07/results_14.html
  • UNIVERSIDAD COMPLUTENSE DE MADRID
    11. Caracterización de mutaciones mediante secuenciación directa del gen CPT2 ... de la potencial patogenicidad de nuevas mutaciones en los genes PYGM y CPT2 ...
    www.ucm.es/BUCM/tesis/far/ucm-t25381.pdf
  • OMIM 600650 - Carnitina palmitoltrasferasi II; CPT2
    La V368I e M647V mutazioni, sebbene non che colpisce attività ... Le analisi del V368I e M647V polimorfismi (vedi 600650.0001) nel gene CPT2 mostrava che l'allele mutante era ...
    www.fonama.org/i_omim/mito6/i_600650.html
  • Carnitine O-Palmitoyltransferase :: deficiency
    BioInfoBank Library :: Carnitine O-Palmitoyltransferase :: deficiency :: Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser ...
    lib.bioinfo.pl/meid:163704

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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