chr4:1801841:C>G Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,803,568-1,803,568 View the variant detail on this assembly version.
hg38 chr4:1,801,841-1,801,841

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.746C>G NP_001156685.1:p.Ser249Cys
NM_022965.3:c.734C>G NP_075254.1:p.Ser245Cys
NM_000142.4:c.746C>G NP_000133.1:p.Ser249Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

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 COSM1149892 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-02-23 criteria provided, multiple submitters, no conflicts Thanatophoric dysplasia type 1 unknown de novo germline Detail
Pathogenic 2016-01-01 criteria provided, single submitter cervical cancer unknown somatic Detail
Pathogenic 2017-07-24 criteria provided, single submitter Malignant tumor of urinary bladder somatic Detail
Pathogenic 2005-05-01 no assertion criteria provided seborrheic keratosis somatic Detail
Pathogenic 2023-12-11 criteria provided, multiple submitters, no conflicts not provided germline somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma, sporadic somatic Detail
Likely pathogenic 2020-05-05 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided carcinoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Urinary bladder carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of testis,Thanatophoric dysplasia type 1,hypochondroplasia,Levy-Hollister syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Carcinoma of colon,achondroplasia,cervical cancer,Muenke Syndrome unknown Detail
Pathogenic 2022-06-06 criteria provided, single submitter Connective tissue disorder germline Detail
Pathogenic 2021-11-29 no assertion criteria provided germline Detail
Pathogenic 2024-03-26 criteria provided, single submitter achondroplasia germline Detail
Pathogenic 2022-11-28 criteria provided, single submitter FGFR3-related disorder germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
transitional cell carcinoma Pazopanib C Predictive Supports Sensitivity/Response Somatic 2 25766722 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) NA CLINVAR Detail
0.275 Malignant neoplasm of urinary bladder Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372... BeFree 21264819 Detail
0.150 thanatophoric dysplasia When the results of the FGFR3 thanatophoric dysplasia mutations located in exon ... BeFree 21264819 Detail
0.019 Carcinoma of bladder Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372... BeFree 21264819 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) When the results of the FGFR3 thanatophoric dysplasia mutations located in exon ... BeFree 21264819 Detail
0.255 seborrheic keratosis NA CLINVAR Detail
0.019 Carcinoma of bladder Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic targ... BeFree 17384684 Detail
<0.001 Carcinoma of urinary bladder, superficial These results indicate that targeted inhibition of S249C FGFR3 may represent a u... BeFree 17384684 Detail
0.275 Malignant neoplasm of urinary bladder Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic targ... BeFree 17384684 Detail
0.004 squamous cell carcinoma Fibroblast growth factor receptor 3 S249C mutation in virus associated squamous ... BeFree 11605053 Detail
0.242 cervix carcinoma NA CLINVAR Detail
0.275 Malignant neoplasm of urinary bladder NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
Case report of a 67 year old woman with high-grade papillary urothelial carcinoma. The patient under... CIViC Evidence Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Thanatophoric dysplasia type 1 ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Cervical cancer ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Malignant tumor of urinary bladder ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Seborrheic keratosis ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Papillary renal cell carcinoma, sporadic ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Squamous cell lung carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Urinary bladder carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Connective tissue disorder ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND See cases ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND Achondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) AND FGFR3-related disorder ClinVar Detail
NA DisGeNET Detail
Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutatio... DisGeNET Detail
When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C a... DisGeNET Detail
Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutatio... DisGeNET Detail
When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C a... DisGeNET Detail
NA DisGeNET Detail
Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer... DisGeNET Detail
These results indicate that targeted inhibition of S249C FGFR3 may represent a useful therapeutic ap... DisGeNET Detail
Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer... DisGeNET Detail
Fibroblast growth factor receptor 3 S249C mutation in virus associated squamous cell carcinomas. DisGeNET Detail
NA DisGeNET Detail
NA 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
rs121913483 dbSNP
Genome
hg38
Position
chr4:1,801,841-1,801,841
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
7854
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
103586
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.653814221999111E-6
Variant (CIViC) (CIViC Variant)
S249C
Transcript 1 (CIViC Variant)
ENST00000340107.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/628
Genome browser