FGFR3 I538V - GET-Evidence

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

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Curation:
Currentness:

FGFR3 I538V

(FGFR3 Ile538Val)


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: 0.985 (probably damaging)
    Web search results (39 hits -- see all)
  • Hypochondroplasia -- GeneReviews -- NCBI Bookshelf
    Abnormal gene product: The effects of the exon 13 FGFR3 mutations (N540K, N540T, and I538V) on FGFR3 function have not yet been established. ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&...
  • European Journal of Human Genetics - Novel FGFR3 mutations ...
    Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the ... of the remaining patients harboured the N540S or I538V substitutions. ...
    www.nature.com/ejhg/journal/v14/n12/full/5201700a.html
  • A novel mutation in FGFR-3 disrupts a putative ...
    Specific mutations in the FGFR3 gene are associated with autosomal dominant ... FGFR3 seems to have a specific role as negative regulator of bone growth, and ...
    physiolgenomics.physiology.org/cgi/content/full/2/1/9
  • Clinical and radiographic features of a family with ...
    MORTIER, GEERT; NUYTINCK, LIEVE; CRAEN, MARGARITA; RENARD, JEAN-PIERRE; LEROY, JULES G; DE PAEPE, ANNE ... of the FGFR3 gene, located in the 4p16.3 region, showed a recurrent ...
    jmg.bmj.com/content/37/3/220.extract
  • SPRANGER and BERNHARD ZABEL THORSTEN SCHWEIKARDT, HEINZ ...
    (FGFR3) gene (1) and is allelic with other dwarfism and. craniosynostosis syndromes, like ... conversions in the FGFR3 gene have been identified in. HCH patients: an N540K exchange, ...
    physiolgenomics.physiology.org/cgi/reprint/2/1/9.pdf
  • Daters thesis
    Thesis on the subject of dwarfism,and mutative Gene structure of FGFR3 Science Genetics science
    www.scribd.com/doc/915058/Daters-thesis
  • FGFR1 (Fibroblast Growth Factor Receptor 1)
    FGFR3 is also present in prostatic epithelium, predominantly in the ... c.1081G>C (splice site), R365fsX41, P366 liter, S439fs, A520T, I538V, V607M, ...
    atlasgeneticsoncology.org/Genes/GC_FGFR1.html
  • FGFR3
    The sites frequently mutated (G380R and N540K) of the FGFR3 gene of seventeen ... The mutations at codons 380 and 540 of the FGFR3 gene were also found to be ...
    www.kslm.org/sub/down.php?Year=2001&pagee=164
  • Achondroplasia/Hypochondroplasia
    Two mutations in the FGFR3 gene account for more than 99 per cent of ... mutation detected (N540K/T or I538V)/ none detected. This result confirms a diagnosis of ...
    sickkids.ca/.../Achondroplasia-Hypochondroplasia.html
  • presenting symptom 1 micromelia [Mode de compatibilité]
    FGFR3 mutations in chondrodysplasia. • FGFR3 : 4p16. • Récepteurs à tyrosine kinase ... I538V. Q485R. N328C. S351C. E360K. N328I. G380K. V381H. HCH. Legend. HCH : ...
    www.ior.it/Allegati/d7750bb9-4e92-4804-a0f1-7f25cc1dd00b.pdf

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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