chr4:1804372:A>G Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,806,099-1,806,099 View the variant detail on this assembly version.
hg38 chr4:1,804,372-1,804,372

HGVS

Type Transcript Protein
RefSeq NM_022965.3:c.1106A>G NP_075254.1:p.Tyr369Cys
NM_001163213.1:c.1124A>G NP_001156685.1:p.Tyr375Cys
NM_000142.4:c.1118A>G NP_000133.1:p.Tyr373Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM1666838 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2021-11-22 criteria provided, conflicting interpretations Thanatophoric dysplasia type 1 unknown germline de novo Detail
Pathogenic 2023-09-20 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2016-05-13 no assertion criteria provided carcinoma somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided Myeloproliferative disorder somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma, sporadic somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-03-10 no assertion criteria provided Urinary bladder carcinoma somatic Detail
Pathogenic 2021-08-20 no assertion criteria provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
bladder carcinoma B Diagnostic Supports Positive Somatic 3 20542753 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) NA CLINVAR Detail
0.269 multiple myeloma Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparati... BeFree 11429702 Detail
0.002 Thanatophoric dysplasia, type 1 We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys m... BeFree 9843049 Detail
Annotation

Annotations

DescrptionSourceLinks
Y375C mutation results in activation of FGFR3 and is associated with bladder carcinoma. Patients wit... CIViC Evidence Detail
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) AND Thanatophoric dysplasia type 1 ClinVar Detail
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) AND Carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) AND Myeloproliferative disorder ClinVar Detail
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) AND Papillary renal cell carcinoma, sporadic ClinVar Detail
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) AND Urinary bladder carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) AND See cases ClinVar Detail
NA DisGeNET Detail
Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C... DisGeNET Detail
We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibro... 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
rs121913485 dbSNP
Genome
hg38
Position
chr4:1,804,372-1,804,372
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
Y375C
Transcript 1 (CIViC Variant)
ENST00000340107.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/196
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