chr15:90088702:C>T Detail (hg38) (IDH2)

Information

Genome

Assembly Position
hg19 chr15:90,631,934-90,631,934 View the variant detail on this assembly version.
hg38 chr15:90,088,702-90,088,702

HGVS

Type Transcript Protein
RefSeq NM_002168.3:c.419G>A NP_002159.2:p.Arg140Gln
NM_001289910.1:c.263G>A NP_001276839.1:p.Arg88Gln
NM_001290114.1:c.263G>A NP_001277043.1:p.Arg88Gln
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 5
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 Pathogenic Likely pathogenic
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 tgv283951327 TogoVar
COSMIC COSM41590 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic RAEB(refractory anemia with excess blasts)-1 unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
Likely pathogenic RAEB-2 unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
Likely pathogenic RCMD(refractory cytopenia with multilineage dysplasia) unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
Likely pathogenic CMML(chronic myelomonocytic leukemia)-2 unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
Likely pathogenic myelodysplastic syndrome;MDS|RAEB(refractory anemia with excess blasts)-1, RAEB-2, RCMD(refractory cytopenia with multilineage dysplasia), CMML(chronic myelomonocytic leukemia)-2 unknown MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-02-02 criteria provided, multiple submitters, no conflicts D-2-hydroxyglutaric aciduria 2 de novo germline unknown Detail
Pathogenic 2022-04-19 criteria provided, single submitter not provided germline Detail
Pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia 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 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 multiple myeloma somatic Detail
Pathogenic 2022-12-30 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Acute Erythroblastic Leukemia To further understand the role of IDH mutations in cancer, we conducted mechanis... BeFree 25398940 Detail
<0.001 blastic plasmacytoid dendritic cell neoplasm Here, we describe the first case of an IDH2 R140Q-mutated blastic plasmacytoid d... BeFree 25481493 Detail
<0.001 D-2-hydroxyglutaric aciduria 1 To confirm the IDH2(wt/R140Q) gain-of-function in D-2-HGA type II, and to evalua... BeFree 21889589 Detail
0.560 Leukemia, Myelocytic, Acute To determine whether mutant IDH enzymes are valid targets for cancer therapy, we... BeFree 25795706 Detail
0.018 Leukemia, Myelocytic, Acute To determine whether mutant IDH enzymes are valid targets for cancer therapy, we... BeFree 25795706 Detail
0.240 D-2-hydroxyglutaric aciduria 2 NA CLINVAR Detail
0.036 Leukemia, Myelocytic, Acute Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. BeFree 23949315 Detail
0.003 Primary myelofibrosis IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PM... BeFree 20410924 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND D-2-hydroxyglutaric aciduria 2 ClinVar Detail
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND not provided ClinVar Detail
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Acute myeloid leukemia ClinVar Detail
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Neoplasm of the large intestine ClinVar Detail
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Myelodysplastic syndrome ClinVar Detail
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Multiple myeloma ClinVar Detail
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Inborn genetic diseases ClinVar Detail
To further understand the role of IDH mutations in cancer, we conducted mechanistic studies in the T... DisGeNET Detail
Here, we describe the first case of an IDH2 R140Q-mutated blastic plasmacytoid dendritic cell neopla... DisGeNET Detail
To confirm the IDH2(wt/R140Q) gain-of-function in D-2-HGA type II, and to evaluate potential therape... DisGeNET Detail
To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse mod... DisGeNET Detail
To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse mod... DisGeNET Detail
NA DisGeNET Detail
Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. DisGeNET Detail
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W... 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
rs121913502 dbSNP
Genome
hg38
Position
chr15:90,088,702-90,088,702
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121404
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.884353069091628E-5
Genome browser