chr10:123274803:G>C Detail (hg19) (FGFR2)

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

Genome

Assembly	Position
hg19	chr10:123,274,803-123,274,803
hg38	chr10:121,515,289-121,515,289 View the variant detail on this assembly version.

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001320654.1:c.431C>G	NP_001307583.1:p.Ser144Cys
	NM_001320658.1:c.848C>G	NP_001307587.1:p.Ser283Cys
	NM_023029.2:c.848C>G	NP_075418.1:p.Ser283Cys
	NM_001144913.1:c.1118C>G	NP_001138385.1:p.Ser373Cys
	NM_001144919.1:c.851C>G	NP_001138391.1:p.Ser284Cys
	NM_000141.4:c.1115C>G	NP_000132.3:p.Ser372Cys
	NM_001144917.1:c.939+4690C>G
	NM_001144915.1:c.848C>G	NP_001138387.1:p.Ser283Cys
	NM_001144914.1:c.779C>G	NP_001138386.1:p.Ser260Cys
	NM_022970.3:c.1118C>G	NP_075259.4:p.Ser373Cys
	NM_001144916.1:c.770C>G	NP_001138388.1:p.Ser257Cys
	NM_001144918.1:c.770C>G	NP_001138390.1:p.Ser257Cys
Ensemble	ENST00000351936.11:c.1115C>G	ENST00000351936.11:p.Ser372Cys
	ENST00000682550.1:c.770C>G	ENST00000682550.1:p.Ser257Cys
	ENST00000478859.5:c.431C>G	ENST00000478859.5:p.Ser144Cys
	ENST00000613048.4:c.848C>G	ENST00000613048.4:p.Ser283Cys
	ENST00000638709.2:c.-56C>G
	ENST00000369056.5:c.1118C>G	ENST00000369056.5:p.Ser373Cys
	ENST00000360144.7:c.851C>G	ENST00000360144.7:p.Ser284Cys
	ENST00000369059.5:c.773C>G	ENST00000369059.5:p.Ser258Cys
	ENST00000358487.10:c.1115C>G	ENST00000358487.10:p.Ser372Cys
	ENST00000369060.8:c.939+4690C>G
	ENST00000357555.9:c.848C>G	ENST00000357555.9:p.Ser283Cys
	ENST00000683211.1:c.1115C>G	ENST00000683211.1:p.Ser372Cys
	ENST00000369061.8:c.779C>G	ENST00000369061.8:p.Ser260Cys
	ENST00000346997.6:c.1115C>G	ENST00000346997.6:p.Ser372Cys
	ENST00000682772.1:c.-56C>G
	ENST00000457416.7:c.1118C>G	ENST00000457416.7:p.Ser373Cys
	ENST00000356226.8:c.770C>G	ENST00000356226.8:p.Ser257Cys
	ENST00000684153.1:c.770C>G	ENST00000684153.1:p.Ser257Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM36905	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-03-01	no assertion criteria provided	Beare-Stevenson cutis gyrata syndrome	germline	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Endometrium neoplasm	somatic	Detail
Pathogenic	2022-07-19	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.562	Cutis Gyrata Syndrome of Beare And Stevenson	Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.	BeFree	18247426	Detail
0.562	Cutis Gyrata Syndrome of Beare And Stevenson	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys) AND Beare-Stevenson cutis gyrata syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys) AND Endometrium neoplasm	ClinVar	Detail
NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys) AND FGFR2-related craniosynostosis	ClinVar	Detail
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.	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: rs121913477 dbSNP
Genome: hg19
Position: chr10:123,274,803-123,274,803
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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