chr15:90630704:C>T Detail (hg19) (IDH2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr15:90,630,704-90,630,704
hg38	chr15:90,087,472-90,087,472 View the variant detail on this assembly version.

HGVS

IDH2

Type	Transcript	Protein
RefSeq	NM_001289910.1:c.626G>A	NP_001276839.1:p.Arg209His
	NM_001290114.1:c.626G>A	NP_001277043.1:p.Arg209His
	NM_002168.3:c.782G>A	NP_002159.2:p.Arg261His
Ensemble	ENST00000540499.2:c.626G>A	ENST00000540499.2:p.Arg209His
	ENST00000330062.8:c.782G>A	ENST00000330062.8:p.Arg261His
	ENST00000559482.5:c.455G>A	ENST00000559482.5:p.Arg152His

Summary

MGeND

Clinical significance
Variant entry
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	Benign Likely benign
Review star
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Links

IDH2

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	COSM6494436	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2014-10-17	criteria provided, single submitter	not specified	germline	Detail
Benign Likely benign	2024-01-06	criteria provided, multiple submitters, no conflicts	D-2-hydroxyglutaric aciduria 2	germline unknown	Detail
Likely benign	2024-04-01	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2020-02-04	criteria provided, single submitter	IDH2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.246	oligodendroglioma	The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes...	BeFree	25277207	Detail
0.008	glioblastoma	ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis an...	BeFree	25427834	Detail
0.122	anaplastic oligodendroglioma	The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes...	BeFree	25277207	Detail
<0.001	Vascular lesions	We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C ...	BeFree	22057234	Detail
0.002	Astrocytoma	ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis an...	BeFree	25427834	Detail
0.009	Well Differentiated Oligodendroglioma	The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes...	BeFree	25277207	Detail
0.053	glioblastoma	ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis an...	BeFree	25427834	Detail
0.139	oligodendroglioma	The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes...	BeFree	25277207	Detail
<0.001	Vascular lesions	We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C ...	BeFree	22057234	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
0.052	Glioma	Furthermore, one of multi-specific mAbs, MsMab-1, recognizes IDH1 mutants (R132H...	BeFree	25324168	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
0.010	Astrocytoma	ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis an...	BeFree	25427834	Detail
0.008	glioblastoma	Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cel...	BeFree	23115158	Detail
0.121	hemangioma	We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C ...	BeFree	22057234	Detail
0.001	glioblastoma	ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis an...	BeFree	25427834	Detail
0.120	hemangioma	We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C ...	BeFree	22057234	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002168.4(IDH2):c.782G>A (p.Arg261His) AND not specified	ClinVar	Detail
NM_002168.4(IDH2):c.782G>A (p.Arg261His) AND D-2-hydroxyglutaric aciduria 2	ClinVar	Detail
NM_002168.4(IDH2):c.782G>A (p.Arg261His) AND not provided	ClinVar	Detail
NM_002168.4(IDH2):c.782G>A (p.Arg261His) AND IDH2-related disorder	ClinVar	Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta...	DisGeNET	Detail
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as ...	DisGeNET	Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta...	DisGeNET	Detail
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.3...	DisGeNET	Detail
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as ...	DisGeNET	Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta...	DisGeNET	Detail
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as ...	DisGeNET	Detail
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and muta...	DisGeNET	Detail
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.3...	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
Furthermore, one of multi-specific mAbs, MsMab-1, recognizes IDH1 mutants (R132H, R132S, R132G) and ...	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
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as ...	DisGeNET	Detail
Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in incre...	DisGeNET	Detail
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.3...	DisGeNET	Detail
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as ...	DisGeNET	Detail
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.3...	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: rs118101777 dbSNP
Genome: hg19
Position: chr15:90,630,704-90,630,704
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121408
Allele Counts in All Race (ExAC): 242
Heterozygous Counts in All Race (ExAC): 234
Homozygous Counts in All Race (ExAC): 4
Allele Frequency in All Race (ExAC): 0.001993278861360042

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