chr10:123276865: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	chr10:123,276,865-123,276,865
hg38	chr10:121,517,351-121,517,351 View the variant detail on this assembly version.

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144919.1:c.820+1331C>G
	NM_000141.4:c.1052C>G	NP_000132.3:p.Ser351Cys
	NM_001144917.1:c.939+2628C>G
	NM_001144913.1:c.1087+1331C>G
	NM_001320654.1:c.368C>G	NP_001307583.1:p.Ser123Cys
	NM_001320658.1:c.785C>G	NP_001307587.1:p.Ser262Cys
	NM_023029.2:c.785C>G	NP_075418.1:p.Ser262Cys
	NM_022970.3:c.1087+1331C>G
	NM_001144916.1:c.707C>G	NP_001138388.1:p.Ser236Cys
	NM_001144918.1:c.707C>G	NP_001138390.1:p.Ser236Cys
	NM_001144914.1:c.749-2032C>G
	NM_001144915.1:c.785C>G	NP_001138387.1:p.Ser262Cys
Ensemble	ENST00000360144.7:c.820+1331C>G
	ENST00000358487.10:c.1052C>G	ENST00000358487.10:p.Ser351Cys
	ENST00000369060.8:c.939+2628C>G
	ENST00000351936.11:c.1052C>G	ENST00000351936.11:p.Ser351Cys
	ENST00000369059.5:c.742+1331C>G
	ENST00000369056.5:c.1087+1331C>G
	ENST00000638709.2:c.-119C>G
	ENST00000478859.5:c.368C>G	ENST00000478859.5:p.Ser123Cys
	ENST00000613048.4:c.785C>G	ENST00000613048.4:p.Ser262Cys
	ENST00000682550.1:c.707C>G	ENST00000682550.1:p.Ser236Cys
	ENST00000457416.7:c.1087+1331C>G
	ENST00000684153.1:c.707C>G	ENST00000684153.1:p.Ser236Cys
	ENST00000356226.8:c.707C>G	ENST00000356226.8:p.Ser236Cys
	ENST00000369061.8:c.749-2032C>G
	ENST00000346997.6:c.1052C>G	ENST00000346997.6:p.Ser351Cys
	ENST00000682772.1:c.-119C>G
	ENST00000357555.9:c.785C>G	ENST00000357555.9:p.Ser262Cys
	ENST00000683211.1:c.1052C>G	ENST00000683211.1:p.Ser351Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-08-01	no assertion criteria provided	Pfeiffer syndrome type 3	germline	Detail
Pathogenic	2021-05-13	no assertion criteria provided	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	de novo germline	Detail
Pathogenic	2023-08-11	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2016-09-17	criteria provided, multiple submitters, no conflicts	Pfeiffer syndrome	unknown germline de novo	Detail
Pathogenic	2023-09-25	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail
Pathogenic		criteria provided, single submitter	Crouzon syndrome	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	Antley-Bixler Syndrome, Autosomal Dominant	NA	CLINVAR		Detail
0.332	Pfeiffer syndrome	Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffe...	BeFree	9714439	Detail
0.010	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffe...	BeFree	9714439	Detail
0.160	craniosynostosis	We report a baby with craniosynostosis and a sacral appendage who has been found...	BeFree	12072807	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) AND Pfeiffer syndrome type 3	ClinVar	Detail
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) AND Antley-Bixler syndrome without genital anomalies or d...	ClinVar	Detail
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) AND not provided	ClinVar	Detail
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) AND Pfeiffer syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) AND Crouzon syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.	DisGeNET	Detail
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.	DisGeNET	Detail
We report a baby with craniosynostosis and a sacral appendage who has been found to have a Ser351Cys...	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: rs121918502 dbSNP
Genome: hg19
Position: chr10:123,276,865-123,276,865
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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