FGFR3 Y373C - GET-Evidence

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

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Curation:
Currentness:

FGFR3 Y373C

(FGFR3 Tyr373Cys)


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: 0.519 (possibly damaging)
    Web search results (195 hits -- see all)
  • Blood -- The inhibitory anti-FGFR3 antibody, PRO-001, is ...
    The inhibitory anti-FGFR3 antibody, PRO-001, is cytotoxic to t(4;14) multiple myeloma cells ... activation of K650E, G384D, and Y373C FGFR3 in myeloma cell lines and ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../4039
  • Blood -- Inhibition of fibroblast growth factor receptor 3 ...
    ( B) NIH 3T3 cells transfected with WT FGFR3, constitutively active Y373C FGFR3, or Ras V12 were cultured in the absence (-) or presence of 25 nM PD173074. ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../3521
  • PLoS ONE: Analysis of STAT1 Activation by Six FGFR3 Mutants ...
    Cells were transfected with N540K, G380R, R248C, Y373C, K650M and K650E-FGFR3 mutants and analyzed for activatory STAT1(Y701) phosphorylation 48 hours later. ...
    plosone.org/article/info:doi/10.1371/journal.pone.0003961
  • CHIR-258 is efficacious in a newly developed fibroblast ...
    ... a luciferase-expressing human KMS-11-luc line that expresses mutant FGFR3 (Y373C) ... relevant preclinical basis for clinical trials of CHIR-258 in FGFR3-positive MM patients. ...
    tripdatabase.com/doc/633506-CHIR-258-is-efficacious-in-a-...
  • Nordihydroguaiaretic Acid Inhibits an Activated Fibroblast ...
    Furthermore, FGFR3 overexpression is often accompanied by mutational activation, ... mutation of FGFR3; in the case of KMS-11, a Y373C mutation that ...
    cancerres.aacrjournals.org/cgi/content/full/68/18/7362
  • Missense FGFR3 mutations create cysteine residues in ...
    Two novel missense mutations (Y373C and G370C) were detected in 8/26 and 1/26 ... FGFR3 gene accounted for 73% of all TD1 cases in our series (Y373C, ...
    hmg.oxfordjournals.org/cgi/content/full/5/4/509
  • CHIR-258 Is Efficacious in A Newly Developed Fibroblast ...
    ... expressing human KMS-11-luc line that expresses mutant FGFR3 (Y373C) ... preclinical basis for clinical trials of CHIR-258 in FGFR3-positive MM patients. 2006. Clin Cancer Res ...
    caliperls.com/support/.../publications/pub_2009091181848.htm
  • Missense FGFR3 mutations create cysteine residues in ...
    Histological aspect of tibial cartilage growth plate from three TD1 fetuses carrying different FGFR3 mutations: (a) Y373C; (b) R248C; (c) J807G. Irregularity ...
    hmg.oxfordjournals.org/cgi/reprint/5/4/509.pdf
  • Catalogue of Somatic Mutations in Cancer
    FGFR3. p.R248C. E22503. FGFR3. p.R248C. E22504. FGFR3. p.R248C. E22505. FGFR3. p.R248C. E22506. FGFR3 ... Y373C. E22652. FGFR3. p.Y373C. E22653. FGFR3. p.Y373C. E22654. FGFR3 ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=7891
  • Catalogue of Somatic Mutations in Cancer
    FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial ... 1046639. FGFR3. p.Y373C. 1046640. FGFR3. p.Y373C. 1046641. FGFR3. p.K650Q ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=16437

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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