SCARB1 G2S - GET-Evidence

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

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Curation:
Currentness:

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SCARB1 G2S

(SCARB1 Gly2Ser)


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Short summary

Higher responsiveness to fenofibrate.

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

  • T @ chr12:125348263: 8.1% (816/10032) in EVS
  • Frequency shown in summary reports: 8.1% (816/10032)

Publications
 

Liu Y, Ordovas JM, Gao G, Province M, Straka RJ, Tsai MY, Lai CQ, Zhang K, Borecki I, Hixson JE, Allison DB, Arnett DK. The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions. J Hum Genet. 2008;53(8):709-17. doi: 10.1007/s10038-008-0302-2. Epub 2008 Jun 10. PubMed PMID: 18542840.

 

Genomes
 

Added in this revision:

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr12:125348263

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr12:125348263

 

 

NA12878

 

Other external references
 

    dbSNP
  • rs4238001
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [fenofibrate]
    This variant was significantly associated with postfenofibrate change for triglycerides. Subjects bearing minor allele A tend to have higher responsiveness to fenofibrate in lowering TG. A total of 1,327 subjects (639 men and 688 women) from 148 families were genotyped. Of these 1,327 subjects, 861 subjects (427 men and 434 women) went through the fenofibrate trial and had complete lipid phenotype and genotype data.
    www.ncbi.nlm.nih.gov/pubmed/18542840
    PolyPhen-2
  • Score: 0.937 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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