CYP3A43 P340A - GET-Evidence

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

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Curation:
Currentness:

CYP3A43 P340A

(CYP3A43 Pro340Ala)


Short summary

 

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

  • G @ chr7:99457605: 13.7% (1477/10758) in EVS
  • G @ chr7:99295540: 15.9% (20/126) in GET-Evidence
  • Frequency shown in summary reports: 13.7% (1477/10758)

Publications
 

Rebbeck TR, Rennert H, Walker AH, Panossian S, Tran T, Walker K, Spangler E, Patacsil-Coomes M, Sachdeva R, Wein AJ, Malkowicz SB, Zeigler-Johnson C. Joint effects of inflammation and androgen metabolism on prostate cancer severity. Int J Cancer. 2008 Sep 15;123(6):1385-9. PubMed PMID: 18566991; PubMed Central PMCID: PMC2700293.

 

Genomes
 

 

 

 

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr7:99295541

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr7:99295541

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr7:99295541

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr7:99295541

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr7:99295541

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr7:99295541

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr7:99295541

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr7:99295541

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr7:99295541

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr7:99295541

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr7:99295541

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr7:99295541

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr7:99295541

 

Other external references
 

    dbSNP
  • rs680055
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Prostatic Neoplasms]
    The CYP3A43*3 allele is characterized by the P340A variant in exon 10. A study at 622 inicident prostate cancer cases and 396 controls suggests a role for this variant in prostate cancer etiology. Another study in African Americans and Caucasians suggests also that this SNP contibutes to prostate cancer risk.
    www.ncbi.nlm.nih.gov/pubmed/14695544; PubMed ID:15548719; PubMed ID:15894682
  • [Prostatic Neoplasms]
    A study in 1,090 Caucasian prostate cancer cases found significant associations involved CYP3A43 P340A genotypes and history of benign prostatic hyperplasia (BPH). These results of the study suggest that androgen metabolism may act in concert with inflammatory phenotypes such as BPH in determining prostate cancer severity.
    www.ncbi.nlm.nih.gov/pubmed/18566991
    PolyPhen-2
  • Score: 0.925 (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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