HSD17B3 G289S - GET-Evidence

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

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Curation:
Currentness:

HSD17B3 G289S

(HSD17B3 Gly289Ser)


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

  • T @ chr9:98997810: 7.0% (757/10758) in EVS
  • T @ chr9:98037630: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 7.0% (757/10758)

Publications
 

Genomes
 

 

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr9:98037631

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr9:98037631

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr9:98037631

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr9:98037631

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr9:98037631

 

GS19129 - var-GS19129-1100-36-ASM
hom T @ chr9:98037631

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr9:98037631

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr9:98037631

 

Other external references
 

    dbSNP
  • rs2066479
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (44 hits -- see all)
  • Profiling Genetic Variation along the Androgen Biosynthesis ...
    Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. Prostate 2002;53:65–8.[CrossRef][Medline] ...
    intl-cancerres.aacrjournals.org/cgi/content/full/66/2/743
  • HSD17B3 - References - Genetics Home Reference
    Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian ... in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3) ...
    ghr.nlm.nih.gov/gene=hsd17b3/show/References
  • Deleterious Missense Mutations and Silent Polymorphism in the ...
    boost to 16 the number of mutations in the HSD17B3 gene that impair ... the G289S allele in women with polycystic ovary syndrome. Screening of 92 chromosomes ...
    jcem.endojournals.org/cgi/reprint/83/8/2855.pdf
  • Deleterious Missense Mutations and Silent Polymorphism in the ...
    The HSD17B3 gene is localized on chromosome 9q22 and is comprised of 11 exons (7) ... We conclude that G289S is an apparently silent polymorphism in the HSD17B3 gene. ...
    jcem.endojournals.org/cgi/content/full/83/8/2855
  • HSD17B3 Gene - GeneCards | DHB3 Protein | DHB3 Antibody
    Complete information for HSD17B3 gene (protein-coding), hydroxysteroid (17-beta) dehydrogenase 3
    www.genecards.org/cgi-bin/carddisp.pl?gc_id=HSD17B3
  • Polymorphisms in Genes Associated with Androgen Biosynthesis ...
    as Risk Factors for Human Prostate Cancer. A c t a U n i v e r s i t a t i s T a m p e r e ... (SRD5A2, HSD3B1, HSD17B2, HSD17B3, AKR1C3, CYP19A1, CYP17A, KLK3, ...
    acta.uta.fi/pdf/951-44-6434-6.pdf
  • Selected article
    1 Division of Epidemiology, School of Public Health, University of ... 117. HSD17B3 (9q22) Hydroxysteroid (17-beta) dehydrogenase 3. G289S (rs2066479) Case ...
    bioscience.org/2007/v12/af/2325/fulltext.asp?...&doi=yes
  • Moyamoya 病感受性遺伝子同定のための in vitro 実験系での検討
    common HSD17B3 polymorphisms in a Japanese population. are associated ... These results suggest that the HSD17B3. G289S polymorphism may be a potential risk ...
    www.med.kitasato-u.ac.jp/eisei79/file/485-490.pdf
  • BioPortfolio - hsd17b3
    hsd17b3 - BioPortfolio ... Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. Prostate. 2002 ...
    www.bioportfolio.com/search/hsd17b3.html
  • Welcome to Juergen Reichardt's Lab!
    This laboratory has a longstanding tradition of characterizing human galactose ... G289S Polymorphism in the HSD17B3 Gene with prostate cancer in Italian Men, The ...
    www.angelfire.com/ri2/reichardt/welcome.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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