FGFR3 G370C - GET-Evidence

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

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Curation:
Currentness:

FGFR3 G370C

(FGFR3 Gly370Cys)


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 (benign)
    Web search results (81 hits -- see all)
  • G370C mutation in the FGFR3 gene in a Japanese patient with ...
    G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. ... It has recently been reported that TD is caused by mutations in the FGFR3 gene. ...
    www.ncbi.nlm.nih.gov/pubmed/9790257
  • Missense FGFR3 mutations create cysteine residues in ...
    Two novel missense mutations (Y373C and G370C) were detected in 8/26 and 1/26 TD1 cases ... Although no FGFR3 mutation was found in one case, TD1 is likely to be ...
    hmg.oxfordjournals.org/cgi/content/full/5/4/509
  • Missense FGFR3 mutations create cysteine residues in ...
    had no detectable FGFR3 mutation and the K650E mutation, previously ... G370C (G/T conversion at nucleotide 1108, 1/26 cases). mesenchymal tissue (fibrous bands) ...
    hmg.oxfordjournals.org/cgi/reprint/5/4/509.pdf
  • Catalogue of Somatic Mutations in Cancer
    p.R248C. E22507. FGFR3. p.R248C. E22508. FGFR3. p.R248C. E22509. FGFR3 ... FGFR3. p.G370C. E22631. FGFR3. p.G370C. E22632. FGFR3. p.G370C. E22633. FGFR3. p.G370C. E22634 ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=7891
  • Identification of Tyrosine Residues in Constitutively ...
    Fibroblast growth factor receptor 3 (FGFR3) mutations are frequently involved in ... extracellular domain of FGFR3 such as R248C and G370C result in thanatophoric ...
    www.molbiolcell.org/cgi/content/full/12/4/931
  • Missense FGFR3 mutations create cysteine residues in ...
    Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) ... novel missense mutations (Y373C and G370C) were detected in 8/26 and ...
    cat.inist.fr/?aModele=afficheN&cpsidt=3031518
  • Catalogue of Somatic Mutations in Cancer
    FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial ... p.G370C. 1046632. FGFR3. p.S371C. 1046633. FGFR3. p.S371C. 1046634. FGFR3. p. ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=16437
  • MUTATIONS IN FGFR3
    ... shows a schematic representation of the FGFR3 gene and the relative positions of a ... G370C. nt1108 G>T. 2. TD 1. S371C. nt1111 A>T. 1. TD 1. Y373C. nt1118 A>G. 24 ...
    www.compgene.com/fgfr3.htm
  • Sequenom, Inc. - Oncogene Rare Somatic Mutations - Profiling ...
    Sequenom's Oncogene Mutation Profiling for rapid screening of somatic mutations using our proprietary oncogene panel including major oncogenes such as EGFR, BRAF, ...
    sequenom.com/getdoc/e351e956-5f99-4597-a11d-e511068f03f5/...
  • BiomedExperts: Missense FGFR3 mutations create cysteine ...
    'Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) ... Two novel missense mutations (Y373C and G370C) were detected in 8/26 and 1/26 ...
    biomedexperts.com/Abstract.bme/8845844/...

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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