chr10:121520130:G>A Detail (hg38) (FGFR2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr10:123,279,644-123,279,644 View the variant detail on this assembly version.
hg38	chr10:121,520,130-121,520,130

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.443C>T	NP_001138388.1:p.Pro148Leu
	NM_001144918.1:c.443C>T	NP_001138390.1:p.Pro148Leu
	NM_001144915.1:c.521C>T	NP_001138387.1:p.Pro174Leu
	NM_000141.4:c.788C>T	NP_000132.3:p.Pro263Leu
	NM_001144919.1:c.521C>T	NP_001138391.1:p.Pro174Leu
	NM_001144913.1:c.788C>T	NP_001138385.1:p.Pro263Leu
	NM_001144917.1:c.788C>T	NP_001138389.1:p.Pro263Leu
	NM_001144914.1:c.749-4811C>T
	NM_022970.3:c.788C>T	NP_075259.4:p.Pro263Leu
	NM_001320654.1:c.104C>T	NP_001307583.1:p.Pro35Leu
	NM_001320658.1:c.521C>T	NP_001307587.1:p.Pro174Leu
	NM_023029.2:c.521C>T	NP_075418.1:p.Pro174Leu
Ensemble	ENST00000346997.6:c.788C>T	ENST00000346997.6:p.Pro263Leu
	ENST00000351936.11:c.788C>T	ENST00000351936.11:p.Pro263Leu
	ENST00000356226.8:c.443C>T	ENST00000356226.8:p.Pro148Leu
	ENST00000357555.9:c.521C>T	ENST00000357555.9:p.Pro174Leu
	ENST00000358487.10:c.788C>T	ENST00000358487.10:p.Pro263Leu
	ENST00000360144.7:c.521C>T	ENST00000360144.7:p.Pro174Leu
	ENST00000369056.5:c.788C>T	ENST00000369056.5:p.Pro263Leu
	ENST00000369059.5:c.443C>T	ENST00000369059.5:p.Pro148Leu
	ENST00000369060.8:c.788C>T	ENST00000369060.8:p.Pro263Leu
	ENST00000369061.8:c.749-4811C>T
	ENST00000457416.7:c.788C>T	ENST00000457416.7:p.Pro263Leu
	ENST00000478859.5:c.104C>T	ENST00000478859.5:p.Pro35Leu
	ENST00000613048.4:c.521C>T	ENST00000613048.4:p.Pro174Leu
	ENST00000638709.2:c.-383C>T
	ENST00000682550.1:c.443C>T	ENST00000682550.1:p.Pro148Leu
	ENST00000682772.1:c.-383C>T
	ENST00000683211.1:c.788C>T	ENST00000683211.1:p.Pro263Leu
	ENST00000684153.1:c.443C>T	ENST00000684153.1:p.Pro148Leu

Summary

MGeND

Clinical significance	Benign
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Benign		Centenarian	germline	MGS000068 (TMGS000140)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2020-06-29	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-03-24	criteria provided, single submitter	Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions	ClinVar	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: rs779326224 dbSNP
Genome: hg38
Position: chr10:121,520,130-121,520,130
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8494
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 119266
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.384619254439656E-6

Genome browser

chr10:121520130:G>A Detail (hg38) (FGFR2)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript