HNF4A V169I - GET-Evidence

Curation:
Currentness:

HNF4A V169I

(HNF4A Val169Ile)


Short summary

Reported to cause maturity onset diabetes of the young (MODY, or monogenic diabetes). This effect is reported as “likely pathogenic” in ClinVar by LabCorp (http://www.ncbi.nlm.nih.gov/clinvar/RCV000030023/). However, according to ExAC this variant is much more frequent in south asian ancestry, where it has an allele frequency of 1.5% (about 1 in 35 carry the variant). This is very strong evidence against it causing this disease, and the reported effect should be considered disproven.

Variant evidence
Computational -
Functional

No functional data

Case/Control 5

Variant much more common than proposed effect

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Likely benign

(The "low clinical importance, likely" 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 @ chr20:43043159: 0.0% (2/10758) in EVS
  • Frequency shown in summary reports: 0.0% (2/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the HNF4A gene
    HNF4A-Related Maturity-Onset Diabetes of the Young Type I
    Maturity-Onset Diabetes of the Young Type I
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HNF4A

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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