CYP1B1 V432L - 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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CYP1B1 V432L

(CYP1B1 Val432Leu)


You are viewing an old version of this page that was saved on November 29, 2012 at 4:52am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 1

PolyPhen: Benign, score 0.001
SIFT: Tolerated 0.14
GVGD: GV 65.28; GD 30.92; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.31);
PolyPhen=benign(0.001);
Condel=deleterious(0.557)
Mutation Tasting Prediction: Polymorphism, P value: 0.998851; protein features (might be) affected (aa 470-470 METAL Iron (heme axial ligand) (By similarity) might get lost)

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 @ chr2:38298203: 44.5% (4786/10758) in EVS
  • G @ chr2:38151706: 43.0% (55/128) in GET-Evidence
  • Frequency shown in summary reports: 44.5% (4786/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr2:38298203

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr2:38298203

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom G @ chr2:38298203

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr2:38298203

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr2:38298203

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr2:38298203

 

 

 

 

Added in this revision:

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr2:38151707

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr2:38151707

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr2:38151707

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr2:38151707

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr2:38151707

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr2:38151707

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr2:38151707

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr2:38151707

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr2:38151707

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr2:38151707

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr2:38151707

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr2:38151707

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr2:38151707

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr2:38151707

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr2:38151707

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr2:38151707

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr2:38151707

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr2:38151707

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr2:38151707

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr2:38151707

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr2:38151707

 

Other external references
 

    dbSNP
  • rs1056836
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (200 hits -- see all)
  • Combination of Polymorphisms From Genes Related to Estrogen ...
    Association Between CYP1B1 V432L and CYP19 TTTA Repeat Variants and Risk of ... The V432L CYP1B1 and the V158M COMT polymorphisms are the main variants studied ...
    jco.ascopubs.org/cgi/content/full/25/24/3596
  • Dissertations from Karolinska Institutet - Published by ...
    In the same patient material, the CYP1B1 V432L polymorphism was studied in relation to ... Association of CYP1B1 V432L polymorphism with prostate cancer metastases. ...
    diss.kib.ki.se/2001/91-89428-12-9
  • Associations of common variants in genes involved in ...
    RESULTS: Evaluations of the CYP1B1 V432L variant (rs1056836) suggested increased ... CONCLUSIONS: CYP1B1 activates chemicals such as polycyclic aromatic hydrocarbons ...
    www.ncbi.nlm.nih.gov/pubmed/19736056
  • Polymorphisms in estrogen biosynthesis and metabolism-related ...
    Assuming a recessive model, the minor allele of CYP1B1 V432L significantly increased the dose-response relationship between personal diagnostic X-ray ...
    www.ncbi.nlm.nih.gov/pubmed/19214745
  • Variation in genes relevant to aromatic hydrocarbon ...
    The CYP1B1 V432L homozygous variant was associated with decreased risk of meningioma (odds ratio [OR] = 0.6; 95% CI, 0.3-1.0) but not the other tumor types. ...
    neuro-oncology.oxfordjournals.org/cgi/content/abstract/8/...
  • Meningioma - Link between meningioma risk and GSTM3 alleles ...
    NewsRx is the leading source of news and information on Meningioma ... "The CYP1B1 V432L homozygous variant was associated with decreased risk of meningioma ...
    www.newsrx.com/article.php?articleID=327942
  • Publicationlist
    IPA - Research for Health Protection ... in the cytochrome P-450 genes CYP1A1T461N, 3801 T > C and CYP1B1 V432L, and in the glutathione S-transferase ...
    ipa.ruhr-uni-bochum.de/e/publik/litera/literaliste.php?...
  • [A novel mutation of CYP1B1 gene in primary congenital ...
    Huang JF, Zhou J, Wang H, Chen D, Zeng LP, Tong JB, Xia XB, Hu ZM ABSTRACT: OBJECTIVE: To investigate the distribution of the CYP1B1 (Cytochrome P450, family 1, ...
    labmeeting.com/paper/29556979/huang-2009-a-novel-mutation-of-cyp1b1...
  • Publications Search
    Title: Variation in genes relevant to aromatic hydrocarbon metabolism and the risk of adult brain tumors. ... The CYP1B1 V432L homozygous variant was associated with decreased ...
    dceg2.cancer.gov/cgi-bin-pubsearch/pubsearch/index.pl?...
  • Euromedica 2009 A.V. Polonikov, V.P. Ivanov, M.A. Solodilova ...
    The interaction between EPHX1 Y113H, CYP1B1 V432L and CYP2D6 G1934A loci has ... such as EPHX1 and CYP1B1, showed signi´Čücant associations with susceptibility ...
    congress-euromedica.de/abstrakt2009/...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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