chr10:121498520:A>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	chr10:123,258,034-123,258,034 View the variant detail on this assembly version.
hg38	chr10:121,498,520-121,498,520

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.1296T>A	NP_001138388.1:p.Asn432Lys
	NM_001144918.1:c.1296T>A	NP_001138390.1:p.Asn432Lys
	NM_001144915.1:c.1380T>A	NP_001138387.1:p.Asn460Lys
	NM_000141.4:c.1647T>A	NP_000132.3:p.Asn549Lys
	NM_001144919.1:c.1383T>A	NP_001138391.1:p.Asn461Lys
	NM_001144913.1:c.1650T>A	NP_001138385.1:p.Asn550Lys
	NM_001144917.1:c.1299T>A	NP_001138389.1:p.Asn433Lys
	NM_001144914.1:c.1311T>A	NP_001138386.1:p.Asn437Lys
	NM_022970.3:c.1650T>A	NP_075259.4:p.Asn550Lys
	NM_001320654.1:c.963T>A	NP_001307583.1:p.Asn321Lys
	NM_001320658.1:c.1380T>A	NP_001307587.1:p.Asn460Lys
	NM_023029.2:c.1380T>A	NP_075418.1:p.Asn460Lys
Ensemble	ENST00000346997.6:c.1641T>A	ENST00000346997.6:p.Asn547Lys
	ENST00000351936.11:c.1641T>A	ENST00000351936.11:p.Asn547Lys
	ENST00000356226.8:c.1296T>A	ENST00000356226.8:p.Asn432Lys
	ENST00000357555.9:c.1380T>A	ENST00000357555.9:p.Asn460Lys
	ENST00000358487.10:c.1647T>A	ENST00000358487.10:p.Asn549Lys
	ENST00000360144.7:c.1383T>A	ENST00000360144.7:p.Asn461Lys
	ENST00000369056.5:c.1650T>A	ENST00000369056.5:p.Asn550Lys
	ENST00000369059.5:c.1305T>A	ENST00000369059.5:p.Asn435Lys
	ENST00000369060.8:c.1299T>A	ENST00000369060.8:p.Asn433Lys
	ENST00000369061.8:c.1311T>A	ENST00000369061.8:p.Asn437Lys
	ENST00000457416.7:c.1650T>A	ENST00000457416.7:p.Asn550Lys
	ENST00000478859.5:c.963T>A	ENST00000478859.5:p.Asn321Lys
	ENST00000613048.4:c.1380T>A	ENST00000613048.4:p.Asn460Lys
	ENST00000638709.2:c.471T>A	ENST00000638709.2:p.Asn157Lys
	ENST00000682550.1:c.1296T>A	ENST00000682550.1:p.Asn432Lys
	ENST00000682772.1:c.471T>A	ENST00000682772.1:p.Asn157Lys
	ENST00000683211.1:c.1641T>A	ENST00000683211.1:p.Asn547Lys
	ENST00000684153.1:c.1296T>A	ENST00000684153.1:p.Asn432Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM427159	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Nasopharyngeal neoplasm	somatic	Detail
Likely pathogenic	2014-12-26	no assertion criteria provided	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant neoplasm of body of uterus	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
endometrial cancer	PD173074	D	Predictive	Supports	Sensitivity/Response	Somatic	3	18757403	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.125	endometrial carcinoma	We cultured BaF3 cells overexpressing FGFR2 in high concentrations of dovitinib ...	BeFree	23908597	Detail

Annotation

Annotations

Descrption	Source	Links
The endometrial cancer cell lines, AN3CA and MFE296, which carry the N550K FGFR2 mutation, were foun...	CIViC Evidence	Detail
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) AND Lung adenocarcinoma	ClinVar	Detail
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) AND Nasopharyngeal neoplasm	ClinVar	Detail
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) AND Endometrial Endometrioid Adenocarcinoma, Variant with...	ClinVar	Detail
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) AND Breast neoplasm	ClinVar	Detail
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) AND Malignant neoplasm of body of uterus	ClinVar	Detail
We cultured BaF3 cells overexpressing FGFR2 in high concentrations of dovitinib and identified 14 do...	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: rs121913476 dbSNP
Genome: hg38
Position: chr10:121,498,520-121,498,520
Variant Type: snv
Reference Allele: A
Alternative Allele: T
Variant (CIViC) (CIViC Variant): N550K
Transcript 1 (CIViC Variant): ENST00000457416.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/545

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