HTR2C C23S - 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:

HTR2C C23S

(HTR2C Cys23Ser)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.000
SIFT: Affect protein function 0.00
GVGD: Class C65

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(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

  • C @ chrX:113965735: 23.3% (2041/8761) in EVS
  • C @ chrX:113871990: 30.4% (28/92) in GET-Evidence
  • Frequency shown in summary reports: 23.3% (2041/8761)

Publications
 

Oterino A, Castillo J, Pascual J, Cayon A, Alonso A, Ruiz-Alegria C, Valle N, Monton F, Ruiz-Lavilla N. Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine. J Headache Pain. 2007 Sep;8(4):231-5. Epub 2007 Sep 24. PubMed PMID: 17901921.

 

Ujike H, Nomura A, Morita Y, Morio A, Okahisa Y, Kotaka T, Kodama M, Ishihara T, Kuroda S. Multiple genetic factors in olanzapine-induced weight gain in schizophrenia patients: a cohort study. J Clin Psychiatry. 2008 Sep;69(9):1416-22. PubMed PMID: 19193342.

 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chrX:113965735

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chrX:113965735

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chrX:113965735

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chrX:113965735

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom C @ chrX:113965735

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chrX:113965735

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chrX:113965735

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chrX:113965735

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chrX:113965735

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chrX:113871991

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chrX:113871991

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chrX:113871991

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chrX:113871991

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chrX:113871991

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chrX:113871991

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chrX:113871991

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chrX:113871991

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chrX:113871991

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chrX:113871991

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chrX:113871991

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chrX:113871991

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chrX:113871991

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chrX:113871991

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chrX:113871991

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chrX:113871991

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chrX:113871991

 

Other external references
 

    dbSNP
  • rs6318
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Weight gain]
    [olanzapine]
    Ser in position 23 is associated with olanzapine-induced weight gain
    www.ncbi.nlm.nih.gov/pubmed/19193342
    PolyPhen-2
  • Score: 0.004 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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