TFR2 I238M - GET-Evidence

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

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Curation:
Currentness:

TFR2 I238M

(TFR2 Ile238Met)


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

  • C @ chr7:100230864: 4.3% (463/10758) in EVS
  • C @ chr7:100068799: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 4.3% (463/10758)

Publications
 

Genomes
 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr7:100068800

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr7:100068800

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr7:100068800

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr7:100068800

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr7:100068800

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr7:100068800

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr7:100068800

 

GS19701 - var-GS19701-1100-36-ASM
hom C @ chr7:100068800

 

Other external references
 

    dbSNP
  • rs34242818
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.004 (benign)
    Web search results (16 hits -- see all)
  • WikiGenes - TFR2 - transferrin receptor 2
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/7036.html
  • Two novel mutations, L490R and V561X, of the transferrin ...
    The HFE and TfR2 genes were analyzed by sequencing the coding region ... homozygous for both L490R and I238M presented with a mild manifestation of ...
    www.ncbi.nlm.nih.gov/pubmed/15749661
  • Non-classical hereditary hemochromatosis in Portugal: novel ...
    Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron ... In TFR2, besides the I238M polymorphism and the rare IVS5 -9T-->A mutation, a novel ...
    www.ncbi.nlm.nih.gov/pubmed/18762941
  • [Wilson's disease and its pharmacological treatment]
    BioInfoBank Library :: [Wilson's disease and its pharmacological treatment] Mechanism of ... patient homozygous for both L490R and I238M presented with a mild manifestation of ...
    lib.bioinfo.pl/pmid:15516801
  • Non-classical hereditary hemochromatosis in Portugal: novel ...
    A mutational analysis of these genes was carried out in 215 Portuguese iron-overloaded ... In TFR2, besides the I238M polymorphism and the rare IVS5 -9T-->A mutation, a novel ...
    docguide.com/news/content.nsf/dgcustomnews/...&lan=English
  • Power point Presentation
    Transferrin receptors: TfR1, TfR2. Ceruloplasmin / Hephaestin. Divalent Metal Transporter 1 ... I238M* Previously described homozygous mutations. Novel homozygous ...
    www.bcsls.net/pages/documents/Hemocrhomatosis10_06.ppt
  • Molecular Haematology I Globin Disorders
    Transferrin receptor-2 (TFR2) mutations and iron overload. Homologue of transferrin ... (TFR2) polymorphisms. Allelic frequency. Polymorphism Patients Control p-value. exon 5 I238M ...
    hku.hk/patho/mm/mmedsc/Molecular Haematology I globin dis...
  • Letters to the Editor
    Table 1. Relationship between TFR2 polymorphisms and iron overload in ... those with TFR2 polymorphisms. Our results show that the TFR2 polymorphisms, I238M and ...
    www.haematologica.org/cgi/reprint/88/3/345.pdf
  • TFR2 - transferrin receptor 2
    He did not have coding region mutations in HFE, TFR2, HAMP or HJV. ... In TFR2, besides the I238M polymorphism and the rare IVS5 -9T-->A mutation, a novel missense mutation was ...
    www.ihop-net.org/UniPub/iHOP/bng/92681.html
  • Unbound MEDLINE | Non-classical hereditary hemochromatosis in ...
    Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron ... In TFR2, besides the I238M polymorphism and the rare IVS5 -9T-->A mutation, a novel ...
    unboundmedicine.com/medline/ebm/record/18762941/abstract/...

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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