CYP19A1 T201M - GET-Evidence

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

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Curation:
Currentness:

CYP19A1 T201M

(CYP19A1 Thr201Met)


Short summary

 

Variant evidence
Computational -
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 @ chr15:51514572: 4.4% (468/10758) in EVS
  • A @ chr15:49301863: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (468/10758)

Publications
 

Genomes
 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr15:49301864

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr15:49301864

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr15:49301864

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr15:49301864

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr15:49301864

 

Other external references
 

    dbSNP
  • rs28757184
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.002 (benign)
    Web search results (21 hits -- see all)
  • Profiling genetic variation along the androgen biosynthesis ...
    Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single ... the joint effect of CYP19A1 T201M with five other common SNPs. ...
    www.ncbi.nlm.nih.gov/pubmed/16424004
  • CYP19A1
    CYP19A1*3B Predicted haplotype. CYP19A1.3 -96170G>A; -95726C>T; -45965C>G; 5845A>G; 5944A> ... 24242T>G; 24408T>A; 26990T>G; 27602A>G; 32124C>T. T201M. Ma et al. ...
    www.cypalleles.ki.se/cyp19a1.htm
  • Profiling Genetic Variation along the Androgen Biosynthesis ...
    We also tested a multigenic model of prostate cancer risk by calculating the joint effect of CYP19A1 T201M with five other common SNPs. ...
    intl-cancerres.aacrjournals.org/cgi/content/abstract/.../743
  • Polymorphisms in Genes Associated with Androgen Biosynthesis ...
    to carry the CYP19A1 T201M T allele (p <0.0001) than population based ... A substitution polymorphism R264C (C>T) in the CYP19A1 showed a weak ...
    acta.uta.fi/pdf/951-44-6434-6.pdf
  • Profiling Genetic Variation along the Androgen Biosynthesis ...
    Association of the CYP19A1 T201M variant with prostate cancer ... Increased risk was noted in individuals carrying both CYP19A1 T201M and KLK3 –252A>G (OR, 2.87; 95% CI, 1.10 ...
    intl-cancerres.aacrjournals.org/cgi/content/full/66/2/743
  • University of Tampere - Dissertations
    This analysis revealed a novel alteration T201M in the CYP19A1 gene. ... times more likely to carry the CYP19A1 T201M T allele (p <0.0001) than population based ...
    acta.uta.fi/english/teos.php?id=10786
  • In vitro kinetic properties of the Thr201Met variant of human ...
    Objective: We hypothesised that the T201M variant would alter the structure of ... transiently transfected with CYP19A1 wild type or T201M variant gene transcripts ...
    jcem.endojournals.org/cgi/content/abstract/jc.2008-2309v1
  • 13.2.2006
    KTL vastaa STM:n hallinnonalan tutkimuslaitoksena siitä, että päätöksentekijöillä, eri alojen ammattilaisilla ja kansalaisilla on käytössään paras ...
    ktl.fi/portal/english/publications/.../13.2.2006
  • AceView: Gene:CYP19A1, 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=CYP19A1
  • Combination of Polymorphisms From Genes Related to Estrogen ...
    Journal of Clinical Oncology, Vol 25, No 24 (August 20), 2007: pp. 3596-3602 ... polymorphism (T201M) located in CYP19 gene was linked to prostate cancer risk ...
    jco.ascopubs.org/cgi/content/full/25/24/3596

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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