FGFR3 K650Q - GET-Evidence

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

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(FGFR3 Lys650Gln)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • GeneTests records for the FGFR3 gene
    Crouzon Syndrome with Acanthosis Nigricans
    FGFR-Related Craniosynostosis
    FGFR3-Related Craniosynostosis
    FGFR3-Related Isolated Coronal Synostosis
    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
  • Score: 1.0 (probably damaging)
    Web search results (57 hits -- see all)
  • Catalogue of Somatic Mutations in Cancer
    FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial ... p.K650Q. 97-29. FGFR3. p.S249C. 97-7. FGFR3. p.S249C. BFTC-905. NRAS. p.Q61L ...
  • Hypochondroplasia -- GeneReviews -- NCBI Bookshelf
    FGFR3 is the only gene known to be associated with hypochondroplasia; however, genetic ... of FGFR3 exons 9, 10, 13, and 15 detects other rare FGFR3 mutations that account for ...
  • FGFR3 - fibroblast growth factor receptor 3
    FGFR3 mutations were detected in 37 of 65 seborrheic keratoses (57 ... in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. ...
  • European Journal of Human Genetics - Novel FGFR3 mutations ...
    Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the ... The previously reported K650Q and N328I mutations were detected in ...
  • Arch Dermatol -- Familial Acanthosis Nigricans Due to K650T ...
    Archives of Dermatology is a monthly professional medical journal published by the ... mutation at codon 650 of the FGFR3 gene in the 4 affected family members who were tested. ...
  • Highly activated Fgfr3 with the K644M mutation causes ...
    Highly activated Fgfr3 with the K644M mutation causes prolonged ... FGFR3 is a negative regulator of the bone growth as targeted disruption of the ...
  • Distinct Missense Mutations of the FGFR3 Lys650 Codon ...
    The fibroblast growth factor–receptor 3 (FGFR3) Lys650 codon is located within a critical ... densitometry and is as follows: K650R, 1.5#; K650N, 3.7#; K650Q, ...
  • share.gene.com
    ... R203C FGFR2 R496T FGFR2 S267P FGFR2 W290C FGFR3 A369A FGFR3 A391E FGFR3 E322K ... FGFR3 G370C FGFR3 G382D FGFR3 I414I FGFR3 K650E FGFR3 K650M FGFR3 K650Q FGFR3 ...
  • Article
    in FGFR3, corresponding to K659 of FGFR2, give rise to. different ... of FGFR2 and the pathogenic mutations of K650Q/N/M/E. of FGFR3, corresponding to K659 of FGFR2, also should ...
  • 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, ...

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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