chr10:123279677:G>A Detail (hg19) (FGFR2)

Information

Genome

Assembly Position
hg19 chr10:123,279,677-123,279,677
hg38 chr10:121,520,163-121,520,163 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001320654.1:c.71C>T NP_001307583.1:p.Ser24Leu
NM_001144915.1:c.488C>T NP_001138387.1:p.Ser163Leu
NM_000141.4:c.755C>T NP_000132.3:p.Ser252Leu
Summary

MGeND

Clinical significance Likely benign Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 176943 OMIM
HGNC 3689 HGNC
Ensembl ENSG00000066468 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40909023 TogoVar
COSMIC COSM4994845 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely benign 2020/04/20 body of pancreas not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic other germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2020-06-30 criteria provided, multiple submitters, no conflicts Crouzon syndrome germline unknown Detail
Uncertain significance 2023-01-28 criteria provided, single submitter FGFR2-related craniosynostosis germline Detail
Conflicting interpretations of pathogenicity 2023-01-01 criteria provided, conflicting interpretations not provided germline Detail
Uncertain significance 2024-01-08 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-10-04 criteria provided, single submitter FGFR2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 endometrial carcinoma NA CLINVAR Detail
0.004 ovarian neoplasm Despite the low incidence of FGFR2 mutations in ovarian cancer, the two FGFR2 mu... BeFree 20106510 Detail
0.455 Apert syndrome NA CLINVAR Detail
<0.001 Scaphycephaly Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
<0.001 Scaphycephaly Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
0.455 Apert syndrome Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
<0.001 Scaphycephaly Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
<0.001 Apert syndrome Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
<0.001 Scaphycephaly Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
<0.001 Apert syndrome Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
0.452 Saethre-Chotzen syndrome Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
0.455 Apert syndrome Apert syndrome results almost exclusively from one of two point mutations (Ser25... BeFree 18215098 Detail
0.455 Apert syndrome Our results confirm a strong correspondence between genotype and facial phenotyp... BeFree 24578066 Detail
0.160 craniosynostosis Apert syndrome is an autosomal dominant disease characterized by craniosynostosi... BeFree 15310757 Detail
0.455 Apert syndrome Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused b... BeFree 11277076 Detail
0.455 Apert syndrome Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are respon... BeFree 18632557 Detail
0.455 Apert syndrome We have identified specific missense substitutions involving adjacent amino acid... BeFree 7719344 Detail
0.160 craniosynostosis Apert syndrome is one of the most severe craniosynostosis that is mainly caused ... BeFree 18242159 Detail
0.005 syndactyly Apert syndrome is an autosomal dominant disease characterized by craniosynostosi... BeFree 15310757 Detail
0.455 Apert syndrome p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the ... BeFree 23546041 Detail
<0.001 strabismus There was a trend of more frequent amblyopia and strabismus in FGFR2 Ser252Trp m... BeFree 17251833 Detail
0.005 syndactyly Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused b... BeFree 11277076 Detail
0.160 craniosynostosis Here we investigate growth of the skull in two inbred mouse models each carrying... BeFree 24580805 Detail
<0.001 Osteosarcoma of bone Stable clones of the human MG63 osteosarcoma cells (MG63-Ap and MG63-IIIc) overe... BeFree 15310757 Detail
0.004 osteosarcoma Stable clones of the human MG63 osteosarcoma cells (MG63-Ap and MG63-IIIc) overe... BeFree 15310757 Detail
0.160 craniosynostosis Role of N-cadherin and protein kinase C in osteoblast gene activation induced by... BeFree 11341328 Detail
0.455 Apert syndrome A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking hu... BeFree 24489893 Detail
0.455 Apert syndrome Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp ... BeFree 16440883 Detail
0.005 syndactyly Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe... BeFree 9719378 Detail
0.455 Apert syndrome The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone ... BeFree 23495007 Detail
0.455 Apert syndrome C&gt;G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndr... BeFree 15840724 Detail
0.455 Apert syndrome A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutatio... BeFree 15310757 Detail
0.455 Apert syndrome Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S2... BeFree 15975938 Detail
<0.001 Skull malformation A S252W mutation of fibroblast growth factor receptor 2 (FGFR2), which is respon... BeFree 24489893 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) AND Crouzon syndrome ClinVar Detail
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) AND FGFR2-related craniosynostosis ClinVar Detail
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) AND not provided ClinVar Detail
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) AND not specified ClinVar Detail
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) AND FGFR2-related disorder ClinVar Detail
NA DisGeNET Detail
Despite the low incidence of FGFR2 mutations in ovarian cancer, the two FGFR2 mutations identified i... DisGeNET Detail
NA DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) i... DisGeNET Detail
Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with... DisGeNET Detail
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyl... DisGeNET Detail
Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused by specific substitut... DisGeNET Detail
Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually ... DisGeNET Detail
We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro... DisGeNET Detail
Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Tr... DisGeNET Detail
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyl... DisGeNET Detail
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and m... DisGeNET Detail
There was a trend of more frequent amblyopia and strabismus in FGFR2 Ser252Trp mutation and more fre... DisGeNET Detail
Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused by specific substitut... DisGeNET Detail
Here we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-... DisGeNET Detail
Stable clones of the human MG63 osteosarcoma cells (MG63-Ap and MG63-IIIc) overexpressing a splice v... DisGeNET Detail
Stable clones of the human MG63 osteosarcoma cells (MG63-Ap and MG63-IIIc) overexpressing a splice v... DisGeNET Detail
Role of N-cadherin and protein kinase C in osteoblast gene activation induced by the S252W fibroblas... DisGeNET Detail
A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome r... DisGeNET Detail
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. DisGeNET Detail
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. DisGeNET Detail
The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Ape... DisGeNET Detail
C&gt;G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, ... DisGeNET Detail
A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficie... DisGeNET Detail
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. DisGeNET Detail
A S252W mutation of fibroblast growth factor receptor 2 (FGFR2), which is responsible for nearly two... 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
rs79184941 dbSNP
Genome
hg19
Position
chr10:123,279,677-123,279,677
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs79184941
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7646
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)
107818
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.492422415552134E-5
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