CPT2 V368I - GET-Evidence

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

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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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom A @ chr1:53676448

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom A @ chr1:53676448

 

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

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom A @ chr1:53676448

 

hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants
het A @ chr1:53449036

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr1:53676448

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom A @ chr1:53676448

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
het A @ chr1:53449036

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom A @ chr1:53676448

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome
het A @ chr1:53676448

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr1:53676448

 

hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289
het A @ chr1:53676448

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom A @ chr1:53676448

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr1:53676448

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr1:53676448

 

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

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr1:53676448

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr1:53676448

 

hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532
het A @ chr1:53676448

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
het A @ chr1:53449036

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom A @ chr1:53676448

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr1:53676448

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr1:53676448

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr1:53676448

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr1:53676448

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr1:53676448

 

huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909
hom A @ chr1:53676448

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
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

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr1:53676448

 

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

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr1:53676448

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
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. 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

Other in silico analyses
 

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

Edit history
 

Gene search

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