chr4:1806162:A>G Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,807,889-1,807,889 View the variant detail on this assembly version.
hg38 chr4:1,806,162-1,806,162

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1954A>G NP_001156685.1:p.Lys652Glu
NM_022965.3:c.1936A>G NP_075254.1:p.Lys646Glu
NM_000142.4:c.1948A>G NP_000133.1:p.Lys650Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 134934 OMIM
HGNC 3690 HGNC
Ensembl ENSG00000068078 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1757111 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-04-04 criteria provided, multiple submitters, no conflicts Thanatophoric dysplasia, type 2 de novo germline unknown Detail
Pathogenic 2009-11-01 no assertion criteria provided multiple myeloma somatic Detail
Pathogenic 2009-11-01 no assertion criteria provided Spermatocytic seminoma somatic Detail
Pathogenic 2022-12-05 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2016-05-13 no assertion criteria provided carcinoma somatic Detail
Pathogenic 2022-02-10 no assertion criteria provided germline Detail
Pathogenic 2022-06-22 criteria provided, single submitter Thanatophoric dysplasia type 1 de novo Detail
Pathogenic 2023-06-16 criteria provided, single submitter thanatophoric dysplasia germline Detail
Pathogenic 2023-11-08 criteria provided, single submitter FGFR3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 chondrosarcoma Meclozine also ameliorated abnormally suppressed proliferation of human chondros... BeFree 24324705 Detail
0.495 Hypochondroplasia (disorder) NA CLINVAR Detail
0.442 Thanatophoric dysplasia, type 2 Two missense mutations in this codon are known to result in strong constitutive ... BeFree 11055896 Detail
0.122 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Two missense mutations in this codon are known to result in strong constitutive ... BeFree 11055896 Detail
<0.001 chondrosarcoma Meclozine also ameliorated abnormally suppressed proliferation of human chondros... BeFree 24324705 Detail
0.002 chondrosarcoma Meclozine also ameliorated abnormally suppressed proliferation of human chondros... BeFree 24324705 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Two missense mutations in this codon are known to result in strong constitutive ... BeFree 11055896 Detail
0.269 multiple myeloma NA CLINVAR Detail
0.275 Malignant neoplasm of urinary bladder NA CLINVAR Detail
0.269 multiple myeloma Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparati... BeFree 11429702 Detail
0.621 achondroplasia Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead'... BeFree 12297284 Detail
0.150 thanatophoric dysplasia Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead'... BeFree 12297284 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead'... BeFree 12297284 Detail
0.442 Thanatophoric dysplasia, type 2 Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a preg... BeFree 24075385 Detail
<0.001 Thanatophoric dysplasia, type 2 The K650E gain-of-function mutation in the tyrosine kinase domain of FGF recepto... BeFree 23972473 Detail
0.495 Hypochondroplasia (disorder) Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in F... BeFree 21510009 Detail
0.120 seminoma Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes iden... BeFree 19855393 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes iden... BeFree 19855393 Detail
0.120 Spermatocytic seminoma NA CLINVAR Detail
0.442 Thanatophoric dysplasia, type 2 The K650E gain-of-function mutation in the tyrosine kinase domain of FGF recepto... BeFree 23972473 Detail
0.442 Thanatophoric dysplasia, type 2 NA CLINVAR Detail
<0.001 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes iden... BeFree 19855393 Detail
<0.001 thanatophoric dysplasia Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes iden... BeFree 19855393 Detail
0.014 acanthosis nigricans Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutati... BeFree 18000903 Detail
<0.001 Dwarfism The K650E gain-of-function mutation in the tyrosine kinase domain of FGF recepto... BeFree 23972473 Detail
0.003 Osteochondrodysplasias Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutati... BeFree 18000903 Detail
<0.001 mucopolysaccharidosis IV Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutati... BeFree 18000903 Detail
0.150 thanatophoric dysplasia Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes iden... BeFree 19855393 Detail
0.007 Carcinogenesis The K650E gain-of-function mutation in the tyrosine kinase domain of FGF recepto... BeFree 23972473 Detail
0.001 Disorder of skeletal system The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes... BeFree 12624096 Detail
0.005 Carcinogenesis The K650E gain-of-function mutation in the tyrosine kinase domain of FGF recepto... BeFree 23972473 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) AND Thanatophoric dysplasia, type 2 ClinVar Detail
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) AND Multiple myeloma ClinVar Detail
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) AND Spermatocytic seminoma ClinVar Detail
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) AND Carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) AND See cases ClinVar Detail
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) AND Thanatophoric dysplasia type 1 ClinVar Detail
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) AND Thanatophoric dysplasia ClinVar Detail
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) AND FGFR3-related disorder ClinVar Detail
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... DisGeNET Detail
NA DisGeNET Detail
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... DisGeNET Detail
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... DisGeNET Detail
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... DisGeNET Detail
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... DisGeNET Detail
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C... DisGeNET Detail
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblas... DisGeNET Detail
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblas... DisGeNET Detail
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblas... DisGeNET Detail
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with ... DisGeNET Detail
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes T... DisGeNET Detail
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. DisGeNET Detail
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations i... DisGeNET Detail
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations i... DisGeNET Detail
NA DisGeNET Detail
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes T... DisGeNET Detail
NA DisGeNET Detail
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations i... DisGeNET Detail
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations i... DisGeNET Detail
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene... DisGeNET Detail
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes T... DisGeNET Detail
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene... DisGeNET Detail
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene... DisGeNET Detail
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations i... DisGeNET Detail
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes T... DisGeNET Detail
The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosi... DisGeNET Detail
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes T... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs78311289 dbSNP
Genome
hg38
Position
chr4:1,806,162-1,806,162
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
157.54
Standard deviation of sample read depth (HGVD)
79.96
Number of reference allele (HGVD)
2413
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1425020712510354E-4
Gene Symbol (HGVD)
FGFR3
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