chr10:121517378:C>T Detail (hg38) (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	chr10:123,276,892-123,276,892 View the variant detail on this assembly version.
hg38	chr10:121,517,378-121,517,378

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.680G>A	NP_001138388.1:p.Cys227Tyr
	NM_001144918.1:c.680G>A	NP_001138390.1:p.Cys227Tyr
	NM_001144915.1:c.758G>A	NP_001138387.1:p.Cys253Tyr
	NM_000141.4:c.1025G>A	NP_000132.3:p.Cys342Tyr
	NM_001144919.1:c.820+1304G>A
	NM_001144913.1:c.1087+1304G>A
	NM_001144917.1:c.939+2601G>A
	NM_001144914.1:c.749-2059G>A
	NM_022970.3:c.1087+1304G>A
	NM_001320654.1:c.341G>A	NP_001307583.1:p.Cys114Tyr
	NM_001320658.1:c.758G>A	NP_001307587.1:p.Cys253Tyr
	NM_023029.2:c.758G>A	NP_075418.1:p.Cys253Tyr
Ensemble	ENST00000346997.6:c.1025G>A	ENST00000346997.6:p.Cys342Tyr
	ENST00000351936.11:c.1025G>A	ENST00000351936.11:p.Cys342Tyr
	ENST00000356226.8:c.680G>A	ENST00000356226.8:p.Cys227Tyr
	ENST00000357555.9:c.758G>A	ENST00000357555.9:p.Cys253Tyr
	ENST00000358487.10:c.1025G>A	ENST00000358487.10:p.Cys342Tyr
	ENST00000360144.7:c.820+1304G>A
	ENST00000369056.5:c.1087+1304G>A
	ENST00000369059.5:c.742+1304G>A
	ENST00000369060.8:c.939+2601G>A
	ENST00000369061.8:c.749-2059G>A
	ENST00000457416.7:c.1087+1304G>A
	ENST00000478859.5:c.341G>A	ENST00000478859.5:p.Cys114Tyr
	ENST00000613048.4:c.758G>A	ENST00000613048.4:p.Cys253Tyr
	ENST00000638709.2:c.-146G>A
	ENST00000682550.1:c.680G>A	ENST00000682550.1:p.Cys227Tyr
	ENST00000682772.1:c.-146G>A
	ENST00000683211.1:c.1025G>A	ENST00000683211.1:p.Cys342Tyr
	ENST00000684153.1:c.680G>A	ENST00000684153.1:p.Cys227Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	2020-09-30	criteria provided, multiple submitters, no conflicts	Crouzon syndrome	germline somatic	Detail
Pathogenic	1995-07-01	no assertion criteria provided	Pfeiffer syndrome	germline	Detail
Pathogenic	2023-11-30	criteria provided, multiple submitters, no conflicts	FGFR2-related craniosynostosis	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Jackson-Weiss syndrome,Saethre-Chotzen syndrome,Neoplasm of stomach,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Pfeiffer syndrome	unknown	Detail
Pathogenic	2021-12-15	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2019-05-31	criteria provided, single submitter	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-02	criteria provided, single submitter	Craniosynostosis syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.255	Craniofacial Dysostosis	NA	CLINVAR		Detail
0.332	Craniofacial dysostosis type 1	Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable man...	BeFree	17105336	Detail
0.255	Craniofacial Dysostosis	Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable man...	BeFree	17105336	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND Crouzon syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND Pfeiffer syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND not provided	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND Antley-Bixler syndrome without genital anomalies or d...	ClinVar	Detail
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) AND Craniosynostosis syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences...	DisGeNET	Detail
Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences...	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: rs121918487 dbSNP
Genome: hg38
Position: chr10:121,517,378-121,517,378
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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