APOB T98I - GET-Evidence

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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:

APOB T98I

(APOB Thr98Ile)


Short summary

Irbestartan more effective than atenolol in lowering blood pressure.

Variant evidence
Computational -
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

  • A @ chr2:21263900: 24.7% (2653/10758) in EVS
  • A @ chr2:21117404: 18.8% (24/128) in GET-Evidence
  • Frequency shown in summary reports: 24.7% (2653/10758)

Publications
 

Bentzen J, Jørgensen T, Fenger M. The effect of six polymorphisms in the Apolipoprotein B gene on parameters of lipid metabolism in a Danish population. Clin Genet. 2002 Feb;61(2):126-34. PubMed PMID: 11940087.

Increased cholesterol levels, association with

Liljedahl U, Lind L, Kurland L, Berglund L, Kahan T, Syvänen AC. Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment. BMC Cardiovasc Disord. 2004 Sep 28;4(1):16. PubMed PMID: 15453913; PubMed Central PMCID: PMC524175.

 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr2:21263900

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr2:21263900

 

hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants
het A @ chr2:21117405

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr2:21263900

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr2:21263900

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr2:21263900

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr2:21263900

 

hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532
het A @ chr2:21263900

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr2:21263900

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr2:21263900

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr2:21263900

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr2:21263900

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr2:21263900

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr2:21263900

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr2:21263900

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr2:21263900

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr2:21263900

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr2:21117405

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr2:21117405

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr2:21117405

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr2:21117405

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr2:21117405

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr2:21117405

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr2:21117405

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr2:21117405

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr2:21117405

 

NA12878

 

Other external references
 

    dbSNP
  • rs1367117
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Hypertension]
    [atenolol; irbesartan]
    The APOB:711C>T, C allele was associated with reduction of blood pressure in response to irbesartan treatment but not atenolol treatment.
    www.ncbi.nlm.nih.gov/pubmed/15453913
    Web search results (3 hits -- see all)
  • AceView: Gene:APOB, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=APOB
  • Cancer Panel Annotation
    2. 21157019. 35. APOB. NM_000384. intron -336. 111. rs1469513. 2. 21171214. 35. APOB. NM_000384 ... NONSYN. T98I (NP_000375) 0.88. 113. rs1800481. 2. 21178862. 35. APOB. NM_000384 ...
    snpcenter.grcf.jhmi.edu/downloads/Cancer_Panel_Annotation...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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