chr10:121517371:C>T Detail (hg38) (FGFR2)

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Summary
Information
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Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr10:123,276,885-123,276,885 View the variant detail on this assembly version.
hg38	chr10:121,517,371-121,517,371

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.687G>A	NP_001138388.1:p.Ala229=
	NM_001144918.1:c.687G>A	NP_001138390.1:p.Ala229=
	NM_001144915.1:c.765G>A	NP_001138387.1:p.Ala255=
	NM_000141.4:c.1032G>A	NP_000132.3:p.Ala344=
	NM_001144919.1:c.820+1311G>A
	NM_001144913.1:c.1087+1311G>A
	NM_001144917.1:c.939+2608G>A
	NM_001144914.1:c.749-2052G>A
	NM_022970.3:c.1087+1311G>A
	NM_001320654.1:c.348G>A	NP_001307583.1:p.Ala116=
	NM_001320658.1:c.765G>A	NP_001307587.1:p.Ala255=
	NM_023029.2:c.765G>A	NP_075418.1:p.Ala255=
Ensemble	ENST00000638709.2:c.-139G>A
	ENST00000346997.6:c.1032G>A	ENST00000346997.6:p.Ala344=
	ENST00000351936.11:c.1032G>A	ENST00000351936.11:p.Ala344=
	ENST00000356226.8:c.687G>A	ENST00000356226.8:p.Ala229=
	ENST00000357555.9:c.765G>A	ENST00000357555.9:p.Ala255=
	ENST00000358487.10:c.1032G>A	ENST00000358487.10:p.Ala344=
	ENST00000360144.7:c.820+1311G>A
	ENST00000369056.5:c.1087+1311G>A
	ENST00000369059.5:c.742+1311G>A
	ENST00000369060.8:c.939+2608G>A
	ENST00000369061.8:c.749-2052G>A
	ENST00000457416.7:c.1087+1311G>A
	ENST00000478859.5:c.348G>A	ENST00000478859.5:p.Ala116=
	ENST00000613048.4:c.765G>A	ENST00000613048.4:p.Ala255=
	ENST00000682550.1:c.687G>A	ENST00000682550.1:p.Ala229=
	ENST00000682772.1:c.-139G>A
	ENST00000683211.1:c.1032G>A	ENST00000683211.1:p.Ala344=
	ENST00000684153.1:c.687G>A	ENST00000684153.1:p.Ala229=

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	COSM4926490	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2016-09-17	criteria provided, single submitter	Crouzon syndrome	germline	Detail
Pathogenic	2005-10-15	no assertion criteria provided	Craniosynostosis, nonclassifiable autosomal dominant	germline	Detail
Pathogenic	2005-10-15	no assertion criteria provided	Scaphocephaly and axenfeld-rieger anomaly	germline	Detail
Pathogenic	2015-02-20	criteria provided, single submitter	Craniosynostosis syndrome	germline	Detail
Pathogenic	2024-01-19	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome	unknown	Detail
Pathogenic	2022-03-04	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-05-04	criteria provided, single submitter	Acrocephalosyndactyly type I	germline	Detail
Pathogenic	2022-05-22	criteria provided, single submitter	Pfeiffer syndrome	germline	Detail
Pathogenic	2022-05-06	criteria provided, single submitter	FGFR2-related disorder	germline	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.255	Craniofacial Dysostosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Crouzon syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Craniosynostosis, nonclassifiable autosomal dominant	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Scaphocephaly and axenfeld-rieger anomaly	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Craniosynostosis syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND not provided	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Acrocephalosyndactyly type I	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Pfeiffer syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND FGFR2-related disorder	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions	ClinVar	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: rs121918491 dbSNP
Genome: hg38
Position: chr10:121,517,371-121,517,371
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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