CPT2 V368I - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

CPT2 V368I

(CPT2 Val368Ile)


Short summary

 

Variant evidence
Computational 2

PolyPhen2: Benign, score 0.003
SIFT: Tolerated 0.21
GVGD: GV 28.68; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(1);
PolyPhen=benign(0.002)
Mutation Tasting Prediction: Polymorphism, P value: 0.938550
protein features (might be) affected (aa 209-658 TOPO_DOM Mitochondrial matrix (By similarity) gets lost)

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

  • A @ chr1:53676448: 45.6% (4902/10758) in EVS
  • A @ chr1:53449035: 39.1% (50/128) in GET-Evidence
  • Frequency shown in summary reports: 45.6% (4902/10758)

Publications
 

Genomes
 

 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr1:53676448

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr1:53676448

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr1:53676448

 

 

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr1:53676448

 

 

 

 

 

 

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr1:53676448

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr1:53676448

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr1:53676448

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr1:53676448

 

 

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr1:53449036

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr1:53449036

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr1:53449036

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr1:53449036

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr1:53449036

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr1:53449036

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr1:53449036

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr1:53449036

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr1:53449036

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr1:53449036

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr1:53449036

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr1:53449036

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr1:53449036

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr1:53449036

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr1:53449036

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr1:53449036

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr1:53449036

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr1:53449036

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr1:53449036

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr1:53449036

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr1:53449036

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr1:53449036

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr1:53449036

 

Other external references
 

    dbSNP
  • rs1799821
    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 (benign)
    Web search results (31 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 ...
    www.cfids-cab.org/cfs-inform/Genes/vladutiu.natelson04.pdf
  • A variable myopathy associated with heterozygosity for the ...
    Analysis of the V368I and M647V polymorphisms in the CPT2 gene showed that the ... While the variability in CPT2 gene haplotypes may contribute to the phenotypic ...
    www.ncbi.nlm.nih.gov/pubmed/10873395
  • 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 ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+600650
  • 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
  • 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
  • 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
  • Clinical/Scientific Notes
    homozygous polymorphisms (F352C and V368I). 6. Her parents demonstrated a heterozygous ... Cavadini P, et al. Two CPT2. mutations in three Japanese patients with ...
    www.unifesp.br/dneuro/neuroinfantil/pdf/3_Neurology_2007.pdf
  • UNIVERSIDAD COMPLUTENSE DE MADRID
    11. CaracterizaciĆ³n de mutaciones mediante secuenciaciĆ³n 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

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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