chr15:90631935:G>A Detail (hg19) (IDH2)

Information

Genome

Assembly Position
hg19 chr15:90,631,935-90,631,935
hg38 chr15:90,088,703-90,088,703 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001289910.1:c.262C>T NP_001276839.1:p.Arg88Trp
NM_001290114.1:c.262C>T NP_001277043.1:p.Arg88Trp
NM_002168.3:c.418C>T NP_002159.2:p.Arg140Trp
Summary

MGeND

Clinical significance not provided
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 147650 OMIM
HGNC 5383 HGNC
Ensembl ENSG00000182054 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM41877 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Acute myeloblastic leukaemia somatic MGS000005
(TMGS000006)
Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided descending colon not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided myelodysplastic syndrome somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Uncertain significance 2023-05-25 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 D-2-hydroxyglutaric aciduria 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Acute myeloid leukemia ClinVar Detail
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Neoplasm of the large intestine ClinVar Detail
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Myelodysplastic syndrome ClinVar Detail
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Multiple myeloma ClinVar Detail
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND not provided 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
rs267606870 dbSNP
Genome
hg19
Position
chr15:90,631,935-90,631,935
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser