FGFR3 E322K - GET-Evidence

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

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Curation:
Currentness:

FGFR3 E322K

(FGFR3 Glu322Lys)


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: 0.004 (benign)
    Web search results (6 hits -- see all)
  • Catalogue of Somatic Mutations in Cancer
    Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor ... FGFR3. p.284fs*10. CRC-386-C. FGFR3. p.E322K. Samples without Mutations ? ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=7593
  • share.gene.com
    ... R203C FGFR2 R496T FGFR2 S267P FGFR2 W290C FGFR3 A369A FGFR3 A391E FGFR3 E322K ... K650Q FGFR3 K650T FGFR3 R248C FGFR3 S249C FGFR3 Y241C FGFR3 Y373C FLT3 A680V ...
    share.gene.com/mutation_classification/cancer.variants.txt
  • Prediction of Cancer Driver Mutations in Protein Kinases
    FGFR3. R248C. Yes. Yes. ND. FGFR3. S249C. Yes. Yes. ND. FGFR3. E322K. Yes. Yes. Yes. FGFR3. K650E. Yes. Yes. Yes. ErbB2. L755P. Yes. Yes. Yes. ErbB2. G776S. Yes. Yes. No. ErbB2. N857S. Yes. Yes. No ...
    cancerres.aacrjournals.org/cgi/reprint/68/6/1675.pdf
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... E322K 330 VAR_026515 PDGFR (0.569) PNDM 15448107 FAM86A Q96G04 S123C 119 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • Cancer Research -- Torkamani and Schork 68 (6): 1675 Table BL1
    FGFR3. S249C. Yes. Yes. ND. FGFR3. E322K. Yes. Yes. Yes. FGFR3. K650E. Yes. Yes. Yes. ErbB2. L755P. Yes. Yes. Yes. ErbB2. G776S. Yes. Yes. No. ErbB2. N857S. Yes. Yes. No. ErbB2. E914K. Yes. Yes. Yes ...
    cancerres.aacrjournals.org/cgi/content-nw/full/.../1675/TBL1
  • The Biostatistics and Bioinformatics Core
    Scripps Genomic Medicine, Scripps Health and. The Scripps Research Institute, La Jolla, CA ... FGFR3 R248C Yes Yes. ND. FGFR3 S249C Yes Yes. ND. FGFR3 E322K Yes Yes. Yes ...
    longevityconsortium.org/symposia/.../schork.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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