chr10:121515280:T>C Detail (hg38) (FGFR2)

Information

Genome

Assembly Position
hg19 chr10:123,274,794-123,274,794 View the variant detail on this assembly version.
hg38 chr10:121,515,280-121,515,280

HGVS

Type Transcript Protein
RefSeq NM_001144916.1:c.779A>G NP_001138388.1:p.Tyr260Cys
NM_001144918.1:c.779A>G NP_001138390.1:p.Tyr260Cys
NM_001144915.1:c.857A>G NP_001138387.1:p.Tyr286Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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
COSMIC COSM4851879 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/12/14 fallopian tube cancer (dissemination) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic other unknown MGS000071
(TMGS000143) 		Kenjiro Kosaki
 Keio University
Kobe Universtiy
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2016-09-17 criteria provided, multiple submitters, no conflicts Beare-Stevenson cutis gyrata syndrome de novo germline unknown Detail
Pathogenic 2007-11-01 no assertion criteria provided endometrial carcinoma somatic Detail
Pathogenic 2023-03-26 criteria provided, multiple submitters, no conflicts not provided de novo germline Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Endometrium neoplasm somatic Detail
Pathogenic 2023-11-17 criteria provided, single submitter FGFR2-related craniosynostosis germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Jackson-Weiss syndrome,Beare-Stevenson cutis gyrata syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Pfeiffer syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Crouzon syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis unknown Detail
Pathogenic 2024-02-13 criteria provided, single submitter FGFR2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 Cutis Gyrata Syndrome of Beare And Stevenson NA CLINVAR Detail
0.562 Cutis Gyrata Syndrome of Beare And Stevenson A case of Beare-Stevenson syndrome with a broad spectrum of features and a revie... BeFree 16531735 Detail
0.562 Cutis Gyrata Syndrome of Beare And Stevenson The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in t... BeFree 17449949 Detail
0.160 craniosynostosis Fgfr2+/Y394C mice exhibited epidermal hyperplasia and premature closure of crani... BeFree 22585574 Detail
0.125 endometrial carcinoma NA CLINVAR Detail
<0.001 Brooke-Spiegler syndrome We developed a mouse model of BSS harboring a FGFR2 Y394C mutation and identifie... BeFree 22585574 Detail
0.004 ovarian neoplasm Despite the low incidence of FGFR2 mutations in ovarian cancer, the two FGFR2 mu... BeFree 20106510 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND Beare-Stevenson cutis gyrata syndrome ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND Endometrial carcinoma ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND not provided ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND Endometrium neoplasm ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND FGFR2-related craniosynostosis ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND multiple conditions ClinVar Detail
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) AND FGFR2-related disorder ClinVar Detail
NA DisGeNET Detail
A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C... DisGeNET Detail
The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth... DisGeNET Detail
Fgfr2+/Y394C mice exhibited epidermal hyperplasia and premature closure of cranial sutures (craniosy... DisGeNET Detail
NA DisGeNET Detail
We developed a mouse model of BSS harboring a FGFR2 Y394C mutation and identified p38 MAPK as an imp... DisGeNET Detail
Despite the low incidence of FGFR2 mutations in ovarian cancer, the two FGFR2 mutations identified i... 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
rs121913478 dbSNP
Genome
hg38
Position
chr10:121,515,280-121,515,280
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser