FGFR3 Y278C - GET-Evidence

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

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Curation:
Currentness:

FGFR3 Y278C

(FGFR3 Tyr278Cys)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the FGFR3 gene
    Achondroplasia
    Crouzon Syndrome with Acanthosis Nigricans
    FGFR-Related Craniosynostosis
    FGFR3-Related Craniosynostosis
    FGFR3-Related Isolated Coronal Synostosis
    Hypochondroplasia
    Lacrimo-Auriculo-Dento-Digital Syndrome
    Muenke Syndrome
    Severe Achondroplasia with Developmental Delay and Acanthosis Ni
    Thanatophoric Dysplasia
    Thanatophoric Dysplasia Type I
    Thanatophoric Dysplasia Type II
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGFR3
    PolyPhen-2
  • Score: 0.989 (probably damaging)
    Web search results (9 hits -- see all)
  • European Journal of Human Genetics - Novel FGFR3 mutations ...
    Novel FGFR3 mutations creating cysteine residues in the extracellular ... An adjacent mutation at position 278 (Y278C) was associated with a severe form of HCH. ...
    www.nature.com/ejhg/journal/v14/n12/full/5201700a.html
  • Daters thesis
    Thesis on the subject of dwarfism,and mutative Gene structure of FGFR3 Science Genetics science
    www.scribd.com/doc/915058/Daters-thesis
  • presenting symptom 1 micromelia [Mode de compatibilité]
    FGFR3 mutations in chondrodysplasia. • FGFR3 : 4p16. • Récepteurs à tyrosine kinase ... Y278C. S279C. G295C. N328C. HCH. S84L. R200C. HCH. X807G. X807L. X807W. SADDAN ...
    www.ior.it/Allegati/d7750bb9-4e92-4804-a0f1-7f25cc1dd00b.pdf
  • Suurperhe Merelä
    ... aiheesta FGFR3 mutaatioista ja sen variaatioista MUTATIONS IN FGFR3 ja ... Y278C (A833G) G380R (G1138A*, G1138C) G375C (G1123T) Hypokondroplasia ...
    www.cs.helsinki.fi/u/mmerela/perhe.html
  • ACHONDROPLASIA HYPOCHONDROPLASIA
    FGFR3 mutations: STAT pathway. activation. FGFR3: negative regulator of ... Y278C. S279C. G295C. N328C. S351C. E360K. N328I. G380K. V381H. HCH. HCH. S84L. R200C. HCH ...
    genetica.ior.it/Allegati/b3a7a20d-5c8e-4ecc-b086-59a05f62...
  • 愛知県心身障害者コロニー発達障害研究所年報26号
    Platyspondylic lethal skeletal dysplasia San DiegotypeにおけるFGFR3変異の同定 ... とシー"クエンス法を用いてFGFR3のエクソン7,9,10,15,19の遺伝子解析を行ったところ、エクソン7においてヘテロの変異872 AG,Y278Cを認めた。 ...
    dinf.ne.jp/doc/.../other/aichi_col/ar1997/z010012601.html
  • OMIM: 146000
    ... with presumed hypochondroplasia have demonstrable mutations in the FGFR3 gene. ... diagnoses when checked against a complete mutation search of the FGFR3 gene. ...
    www.genome.jp/dbget-bin/www_bget?omim+146000
  • OMIM: 134934
    Fgfr3 also induced complete growth arrest, whereas the delta-AB isoform induced ... of the human FGFR3 gene is nearly identical to that of the mouse Fgfr3 gene. ...
    www.genome.jp/dbget-bin/www_bget?omim+134934

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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