chr10:123258034:A>T Detail (hg19) (FGFR2)

Information

Genome

Assembly Position
hg19 chr10:123,258,034-123,258,034
hg38 chr10:121,498,520-121,498,520 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001144914.1:c.1311T>A NP_001138386.1:p.Asn437Lys
NM_001144917.1:c.1299T>A NP_001138389.1:p.Asn433Lys
NM_001320654.1:c.963T>A NP_001307583.1:p.Asn321Lys
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided caecum not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
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

DescrptionSourceLinks
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
hg19
Position
chr10:123,258,034-123,258,034
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
Genome browser