HNF1A S487N - GET-Evidence

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

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Curation:
Currentness:

HNF1A S487N

(HNF1A Ser487Asn)


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 @ chr12:121435427: 24.6% (2651/10758) in EVS
  • A @ chr12:119919809: 21.3% (23/108) in GET-Evidence
  • Frequency shown in summary reports: 24.6% (2651/10758)

Publications
 

Urhammer SA, Rasmussen SK, Kaisaki PJ, Oda N, Yamagata K, Møller AM, Fridberg M, Hansen L, Hansen T, Bell GI, Pedersen O. Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM. Diabetologia. 1997 Apr;40(4):473-5. PubMed PMID: 9112026.

Authors found that the frequency of the Ser487Asn allele was similar in NIDDM patients and controls. They concluded that this variation (and three other nucleotide substitutions) in the “HNF-1 alpha gene is not a common factor contributing to NIDDM susceptibility in white subjects of Danish ancestry.”

Giuffrida FM, Furuzawa GK, Kasamatsu TS, Oliveira MM, Reis AF, Dib SA. HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study. Cardiovasc Diabetol. 2009 Jun 2;8:28. PubMed PMID: 19490620; PubMed Central PMCID: PMC2696421.

Late onset autosomal dominant diabetes mellitus “showed significantly higher” frequency of variant “S487N (72.2% vs 43.8%, p = 0.049) of HNF1A compared to classical Type 2 diabetes mellitus.”

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr12:121435427

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr12:121435427

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr12:121435427

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr12:121435427

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom A @ chr12:121435427

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr12:121435427

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr12:121435427

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr12:121435427

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr12:121435427

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom A @ chr12:121435427

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr12:121435427

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr12:121435427

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr12:121435427

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr12:119919810

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr12:119919810

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr12:119919810

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr12:119919810

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr12:119919810

 

GS19648 - var-GS19648-1100-36-ASM
hom A @ chr12:119919810

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr12:119919810

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr12:119919810

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr12:119919810

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr12:119919810

 

Other external references
 

    dbSNP
  • rs2464196
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (23 hits -- see all)
  • IDF-GD Lille 2003 - Abstracts
    Aim: To evaluate the influence of common variants (I27L and S487N) in the HNF1a gene on changes in glucose and insulin levels by time and risk of developing T2DM. ...
    www-good.ibl.fr/idf-gd/posters/topic1/poster_45.htm
  • Cardiovascular Diabetology | Full text | HNF1A gene variants ...
    HNF1A gene polymorphisms and cardiovascular risk factors in ... However, LOADDM group is enriched for common HNF1A polymorphisms A98V and S487N. ...
    www.cardiab.com/content/8/1/28
  • HNF1A gene polymorphisms and cardiovascular risk factors in ...
    HNF1A is a frequent cause of monogenic diabetes, albeit with early-onset. ... However, LOADDM group is enriched for common HNF1A polymorphisms A98V and S487N. ...
    www.cardiab.com/content/xml/1475-2840-8-28.xml
  • IDF-GD Lille 2003 - Abstracts
    To study the effect of variants in Hnf1a on T2D, a large haplotype-based association ... and S487N, was selected to uniquely distinguish the >2% haplotypes in the Hnf1a region. ...
    www-good.ibl.fr/idf-gd/posters/topic1/poster_39.htm
  • Supplementary Table 1:
    Li, Q. et al. Chin Med J . 115, 209-213 (2002) ALR2. Promoter (-106) C > ... HNF1a. A98V. HNF1a. H514R. HNF1a. S487N. HNF1b. G492S. HNF4a. P436S. HXK4. A11T ...
    www.mcponline.org/cgi/data/M500024-MCP200/DC1/1
  • Cardiovascular Diabetology RSS
    HNF1A gene variants and cardiovascular risk factors in individuals with late ... However, LOADDM group is enriched for common HNF1A polymorphisms A98V and S487N. ...
    medworm.com/rss/search.php?...+Diabetology&s=Search&f=source
  • Type I- 99%
    ... belgian patient PRB2 P02812 S274P 274 VAR_019695 CK1 (0.632) Con1-, abolishes the glycosylation site at ... rs4871827) 14702039 15489334 HNF1A P20823 S487N 487 VAR_007906 MAPK ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... (0.728) Polymorphism (dbSNP:rs4871827) 14702039 15489334 HNF1A P20823 S487N 487 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • HNF1A gene variants and cardiovascular risk factors in ...
    HNF1A is a frequent cause of monogenic diabetes, albeit with early-onset. ... However, LOADDM group is enriched for common HNF1A polymorphisms A98V and S487N. ...
    7thspace.com/headlines/310848/hnf1a_gene_variants_and_car...
  • Endocrinology Medical News about cardiovascular risk factors ...
    However, LOADDM group is enriched for common HNF1A polymorphisms A98V and S487N. ... LOADDM showed significantly higher frequencies of SNPs A98V and S487N of HNF1A vs CT2DM ...
    www.mdlinx.com/endolinx/news-article.cfm/2739519

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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