chr15:90088703:G>A Detail (hg38) (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	chr15:90,631,935-90,631,935 View the variant detail on this assembly version.
hg38	chr15:90,088,703-90,088,703

HGVS

IDH2

Type	Transcript	Protein
RefSeq	NM_002168.3:c.418C>T	NP_002159.2:p.Arg140Trp
	NM_001289910.1:c.262C>T	NP_001276839.1:p.Arg88Trp
	NM_001290114.1:c.262C>T	NP_001277043.1:p.Arg88Trp
Ensemble	ENST00000330062.8:c.418C>T	ENST00000330062.8:p.Arg140Trp
	ENST00000540499.2:c.262C>T	ENST00000540499.2:p.Arg88Trp
	ENST00000559482.5:c.208-201C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

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	tgv392994830	TogoVar
	COSMIC	COSM41877	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

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

Descrption	Source	Links
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: hg38
Position: chr15:90,088,703-90,088,703
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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