FGFR3 S371C - GET-Evidence

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

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Curation:
Currentness:

FGFR3 S371C

(FGFR3 Ser371Cys)


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: 0.071 (benign)
    Web search results (47 hits -- see all)
  • Catalogue of Somatic Mutations in Cancer
    FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial ... p.S371C. 1046633. FGFR3. p.S371C. 1046634. FGFR3. p.Y373C. 1046635. FGFR3. p. ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=16437
  • A Ser365{->}Cys mutation of fibroblast growth factor receptor ...
    FGFR3 is one of four membrane-spanning tyrosine kinase receptors that mediate ... The S371C mutation in human FGFR3 results in TD-I, a neonatally lethal skeletal ...
    hmg.oxfordjournals.org/cgi/content/full/10/5/457
  • Catalogue of Somatic Mutations in Cancer
    Sample. Gene. AA Mutation. CDS Mutation. Somatic Status. Zygosity. 1016922. FGFR3. p.S371C ... genetic alteration associated with FGFR3 mutations in superficial papillary ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...
  • MUTATIONS IN FGFR3
    ... shows a schematic representation of the FGFR3 gene and the relative positions of a ... S371C. nt1111 A>T. 1. TD 1. Y373C. nt1118 A>G. 24. Achondroplasia. G380R ...
    www.compgene.com/fgfr3.htm
  • Gly369Cys mutation in mouse FGFR3 causes achondroplasia by ...
    Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis ... type, G380R, S371C, G375C and K650E mutants of FGFR3 were transiently ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC409856
  • Thanatophoric Dysplasia, Types 1 & 2 (FGFR3) 13 Mutations ...
    Cause: Fibroblast growth factor receptor 3 (FGFR3) gene mutations. ... c.1108G>T (G370C), c.1111A>T (S371C), c.1118A>G (Y373C), c.2419T>G (X807G) ...
    www.aruplab.com/guides/ug/tests/0051506.jsp
  • No evidence of somatic FGFR3 mutation in various types of ...
    Oncogene is one of the world's leading cancer journals. It is published weekly and covers all aspects of the structure and function of Oncogenes. ...
    www.nature.com/onc/journal/v20/n36/full/1204651a.html
  • Oncogenic properties of the mutated forms of fibroblast ...
    FGFR3 (fibroblast growth factor receptor 3) belongs to a family of structurally ... kinase inhibitor, or FGFR3 depletion, using FGFR3 siRNA, decreased cell growth ...
    carcin.oxfordjournals.org/cgi/content/full/27/4/740
  • Hong Kong Journal of Paediatrics
    Keyword : FGFR3 gene; Platyspondyly lethal skeletal dysplasia; San Diego type; ... penetrance of FGFR3 mutations and no phenotype-genotype correlation ...
    www.hkjpaed.org/details.asp?id=589&show=1234
  • Selected article
    Science, global weekly of science ... of FGFR3 function) FGFR3 knockout mice. 60, 132. CDC. A391E. HCH. N328I, N540K. NSC,MS. P250R, P350L. TD. S371C. S365C ...
    bioscience.org/2008/v13/af/2890/fulltext.asp?...&doi=yes

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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