chr10:123274794:T>C Detail (hg19) (FGFR2)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

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

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001320654.1:c.440A>G	NP_001307583.1:p.Tyr147Cys
	NM_022970.3:c.1127A>G	NP_075259.4:p.Tyr376Cys
	NM_001144919.1:c.860A>G	NP_001138391.1:p.Tyr287Cys
	NM_001144913.1:c.1127A>G	NP_001138385.1:p.Tyr376Cys
	NM_001144917.1:c.939+4699A>G
	NM_001144914.1:c.788A>G	NP_001138386.1:p.Tyr263Cys
	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
	NM_000141.4:c.1124A>G	NP_000132.3:p.Tyr375Cys
	NM_001320658.1:c.857A>G	NP_001307587.1:p.Tyr286Cys
	NM_023029.2:c.857A>G	NP_075418.1:p.Tyr286Cys
Ensemble	ENST00000478859.5:c.440A>G	ENST00000478859.5:p.Tyr147Cys
	ENST00000457416.7:c.1127A>G	ENST00000457416.7:p.Tyr376Cys
	ENST00000346997.6:c.1124A>G	ENST00000346997.6:p.Tyr375Cys
	ENST00000351936.11:c.1124A>G	ENST00000351936.11:p.Tyr375Cys
	ENST00000360144.7:c.860A>G	ENST00000360144.7:p.Tyr287Cys
	ENST00000369056.5:c.1127A>G	ENST00000369056.5:p.Tyr376Cys
	ENST00000369059.5:c.782A>G	ENST00000369059.5:p.Tyr261Cys
	ENST00000369060.8:c.939+4699A>G
	ENST00000369061.8:c.788A>G	ENST00000369061.8:p.Tyr263Cys
	ENST00000356226.8:c.779A>G	ENST00000356226.8:p.Tyr260Cys
	ENST00000357555.9:c.857A>G	ENST00000357555.9:p.Tyr286Cys
	ENST00000358487.10:c.1124A>G	ENST00000358487.10:p.Tyr375Cys
	ENST00000613048.4:c.857A>G	ENST00000613048.4:p.Tyr286Cys
	ENST00000638709.2:c.-47A>G
	ENST00000682550.1:c.779A>G	ENST00000682550.1:p.Tyr260Cys
	ENST00000682772.1:c.-47A>G
	ENST00000683211.1:c.1124A>G	ENST00000683211.1:p.Tyr375Cys
	ENST00000684153.1:c.779A>G	ENST00000684153.1:p.Tyr260Cys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	5
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

FGFR2

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
Pathogenic	2020/04/20	extrahepatic bile duct	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		Crouzon syndrome/Pfeiffer syndrome/Beare-Stevenson cutis gyrata syndrome etc.	germline	MGS000009 (TMGS000039)	Shoji Tsuji	Tokyo University
Pathogenic		other	unknown	MGS000071 (TMGS000143)	Kenjiro Kosaki	Keio University Kobe Universtiy
Pathogenic		other	germline	MGS000073 (TMGS000167)	Kenjiro Kosaki	Keio University IRUD
Pathogenic	2020/04/20	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

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

Descrption	Source	Links
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: hg19
Position: chr10:123,274,794-123,274,794
Variant Type: snv
Reference Allele: T
Alternative Allele: C

Genome browser

chr10:123274794:T>C Detail (hg19) (FGFR2)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript