chr15:90631838:C>T Detail (hg19) (IDH2)

Information

Genome

Assembly Position
hg19 chr15:90,631,838-90,631,838
hg38 chr15:90,088,606-90,088,606 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001289910.1:c.359G>A NP_001276839.1:p.Arg120Lys
NM_001290114.1:c.359G>A NP_001277043.1:p.Arg120Lys
NM_002168.3:c.515G>A NP_002159.2:p.Arg172Lys
Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic; risk factor
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 COSM33733 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
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 hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
not provided 2016-03-10 no assertion provided myelodysplastic syndrome 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 somatic Detail
risk factor no assertion criteria provided acute myocardial infarction somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 2 22616558 Detail
myelodysplastic syndrome B Prognostic Does Not Support N/A Somatic 2 21997850 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 3 21596855 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.246 oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
0.122 anaplastic oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
0.009 Well Differentiated Oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
0.139 oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
0.004 Carcinogenesis The R132H and R172K mutations of isocitrate dehydrogenase 1 and 2, respectively,... BeFree 25251602 Detail
0.007 anaplastic oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
0.053 glioblastoma Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cel... BeFree 23115158 Detail
0.007 Carcinogenesis The R132H and R172K mutations of isocitrate dehydrogenase 1 and 2, respectively,... BeFree 25251602 Detail
0.004 Well Differentiated Oligodendroglioma The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes... BeFree 25277207 Detail
0.008 glioblastoma Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cel... BeFree 23115158 Detail
0.036 Leukemia, Myelocytic, Acute Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. BeFree 23949315 Detail
Annotation

Annotations

DescrptionSourceLinks
AML patients with IDH2 mutations such as R172K have event free survival and overall survival similar... CIViC Evidence Detail
In patients suffering from MDS, the presence of IDH2 mutations such as R172K do not confer prognosti... CIViC Evidence Detail
In AML, patients with an IDH2 R172K mutation have worse overall survival compared to those with wild... CIViC Evidence Detail
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) AND Acute myeloid leukemia ClinVar Detail
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) AND Hepatocellular carcinoma ClinVar Detail
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) AND Neoplasm of brain ClinVar Detail
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) AND Myelodysplastic syndrome ClinVar Detail
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) AND Neoplasm of the large intestine ClinVar Detail
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) AND Brainstem glioma ClinVar Detail
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) AND Acute myocardial infarction ClinVar Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
The R132H and R172K mutations of isocitrate dehydrogenase 1 and 2, respectively, (IDH1 and IDH2) hav... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in incre... DisGeNET Detail
The R132H and R172K mutations of isocitrate dehydrogenase 1 and 2, respectively, (IDH1 and IDH2) hav... DisGeNET Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta... DisGeNET Detail
Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in incre... DisGeNET Detail
Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. 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
rs121913503 dbSNP
Genome
hg19
Position
chr15:90,631,838-90,631,838
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
R172K
Transcript 1 (CIViC Variant)
ENST00000330062.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/63
Summary (CIViC Variant)
IDH2 mutations have been observed in a number of hematologic malignancies. In acute myeloid leukemia, the R172K mutation has been linked with poorer prognosis and worse overall survival than IDH2 wild-type patients. However, in myelodisplastic syndromes, studies did not find a prognostic association between this variant and patient outcomes.
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