ConVarT

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Stop Retained Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
15-90627498-C-T	ENST00000559482	p.Ter313Ter	Stop Retained Variant	0	0	0	rs201015211
15-90627498-CT-C	ENST00000559482	p.Ter313Trp	Frameshift Variant	1	31402	0.000032	rs201015211	lc_lof
15-90627500-A-G	ENST00000559482	p.Ter313GlnextTer42	Stop Lost	1	31344	0.000032	rs1338198131
15-90627503-G-C	ENST00000559482	p.Gln312Glu	Missense Variant	0	0	0	rs553627406
15-90627504-C-T	ENST00000559482	p.Arg311Arg	Synonymous Variant	0	0	0	rs1437772133
15-90627506-T-C	ENST00000559482	p.Arg311Gly	Missense Variant	0	0	0	rs764173046
15-90627506-TG-T	ENST00000559482	p.Arg311GlyfsTer17	Frameshift Variant	0	0	0	rs764173046	lc_lof
15-90627507-G-A	ENST00000559482	p.Gly310Gly	Synonymous Variant	0	0	0	rs1274961598
15-90627511-A-G	ENST00000559482	p.Leu309Pro	Missense Variant	0	0	0	rs970553405
15-90627512-G-A	ENST00000559482	p.Leu309Leu	Synonymous Variant	5	31390	0.000159	rs148745668
15-90627514-G-A	ENST00000559482	p.Ala308Val	Missense Variant	0	0	0	rs760563629
15-90627529-C-T	ENST00000559482	p.Ser303Asn	Missense Variant	0	0	0	rs1353955432
15-90627535-A-G	ENST00000559482	p.Ile301Thr	Missense Variant	0	0	0	rs1245033583
15-90627538-G-C	ENST00000559482	p.Thr300Ser	Missense Variant	1	31398	0.000032	rs766269621
15-90627540-G-A	ENST00000559482	p.Asp299Asp	Synonymous Variant	0	0	0	rs1453284138
15-90627542-C-T	ENST00000559482	p.Asp299Asn	Missense Variant	0	0	0	rs1222149957
15-90627543-G-C	ENST00000559482	p.Leu298Leu	Synonymous Variant	0	0	0	rs578203629
15-90627545-G-A	ENST00000559482	p.Leu298Phe	Missense Variant	1	31380	0.000032	rs754752564
15-90627552-C-T	ENST00000559482	p.Thr295Thr	Synonymous Variant	0	0	0	rs764864079
15-90627553-G-A	ENST00000559482	p.Thr295Met	Missense Variant	109	31392	0.003472	rs118053940

Showing 1 to 20 of 285 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin
IDH2_ENST00000559482	ENST00000559482	2085890	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Reported in another cancer sample as somatic	PMID: 24443894	NS
IDH2_ENST00000559482	ENST00000559482	10532X25	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Reported in another cancer sample as somatic	PMID: 26648538	NS
IDH2_ENST00000559482	ENST00000559482	Pt_4_Relapse	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	87553615	c.208-105A>G	p.?	Unknown	PATHOGENIC	.97453	Reported in another cancer sample as somatic	PMID: 27369867	recurrent
IDH2_ENST00000559482	ENST00000559482	1672524	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Reported in another cancer sample as somatic	PMID: 22520341	primary
IDH2_ENST00000559482	ENST00000559482	PD7913a	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553640	c.208-104G>A	p.?	Unknown	PATHOGENIC	.99434	Reported in another cancer sample as somatic	PMID: 27276561	NS
IDH2_ENST00000559482	ENST00000559482	TCGA-AB-2973-03	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Confirmed somatic variant	PMID: N/A	NS
IDH2_ENST00000559482	ENST00000559482	TCGA-QK-A6VB-01	upper_aerodigestive_tract	carcinoma	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Confirmed somatic variant	PMID: N/A	primary
IDH2_ENST00000559482	ENST00000559482	PD10983a	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Reported in another cancer sample as somatic	PMID: 27276561	NS
IDH2_ENST00000559482	ENST00000559482	AML_231	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Reported in another cancer sample as somatic	PMID: 27288520	primary
IDH2_ENST00000559482	ENST00000559482	TCGA-AB-2866-03	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Confirmed somatic variant	PMID: N/A	NS
IDH2_ENST00000559482	ENST00000559482	2313407	central_nervous_system	glioma	87554490	c.208-135C>T	p.?	Unknown	PATHOGENIC	.91043	Reported in another cancer sample as somatic	PMID: 25495392	primary
IDH2_ENST00000559482	ENST00000559482	1484700	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553640	c.208-104G>A	p.?	Unknown	PATHOGENIC	.99434	Reported in another cancer sample as somatic	PMID: 21173122	NS
IDH2_ENST00000559482	ENST00000559482	AML_526	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Confirmed somatic variant	PMID: 27288520	primary
IDH2_ENST00000559482	ENST00000559482	AML_87	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Reported in another cancer sample as somatic	PMID: 27288520	primary
IDH2_ENST00000559482	ENST00000559482	2592660	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Reported in another cancer sample as somatic	PMID: 27881874	NS
IDH2_ENST00000559482	ENST00000559482	1661560	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553643	c.208-200G>A	p.?	Unknown	PATHOGENIC	.98306	Reported in another cancer sample as somatic	PMID: 22397365	primary
IDH2_ENST00000559482	ENST00000559482	1672517	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553640	c.208-104G>A	p.?	Unknown	PATHOGENIC	.99434	Reported in another cancer sample as somatic	PMID: 22520341	primary
IDH2_ENST00000559482	ENST00000559482	AML_508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	87553640	c.208-104G>A	p.?	Unknown	PATHOGENIC	.99434	Reported in another cancer sample as somatic	PMID: 27288520	primary
IDH2_ENST00000559482	ENST00000559482	HCA7	large_intestine	carcinoma	87555105	c.208-184dup	p.?	Unknown			Reported in another cancer sample as somatic	PMID: 24755471	NS
IDH2_ENST00000559482	ENST00000559482	1735856	biliary_tract	carcinoma	87553640	c.208-104G>A	p.?	Unknown	PATHOGENIC	.99434	Reported in another cancer sample as somatic	PMID: 22824796	NS

Showing 1 to 20 of 847 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00180	Iso_dh	Isocitrate/isopropylmalate dehydrogenase	45-441	CL0270	Iso_DH	Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Osteoporosis, Age-Related	Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ;	0.469	0.655
Astrocytoma	Neoplasms ;	0.469	0.655
Biliary Tract Neoplasm	Neoplasms ; Digestive System Diseases ;	0.469	0.655
Cardiomyopathy, Dilated	Cardiovascular Diseases ;	0.469	0.655
Hypertrophic Cardiomyopathy	Cardiovascular Diseases ;	0.469	0.655
CNS disorder	Nervous System Diseases ;	0.469	0.655
Cytopenia	N/A	0.469	0.655
Dyschondroplasias	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.469	0.655
Enchondromatosis	Musculoskeletal Diseases ;	0.469	0.655
Ependymoma	Neoplasms ;	0.469	0.655
Growth Disorders	Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Cardiomegaly	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Hemangioma	Neoplasms ;	0.469	0.655
Hydronephrosis	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.469	0.655
Angioimmunoblastic Lymphadenopathy	Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.469	0.655
Jacksonian Seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Leukemia, Myelocytic, Acute	Neoplasms ;	0.469	0.655
Acute Promyelocytic Leukemia	Neoplasms ;	0.469	0.655
Maffucci Syndrome	Musculoskeletal Diseases ;	0.469	0.655
Acute Myeloid Leukemia, M1	Neoplasms ;	0.469	0.655
Neoplasm Recurrence, Local	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
oligodendroglioma	Neoplasms ;	0.469	0.655
Degenerative polyarthritis	Musculoskeletal Diseases ;	0.469	0.655
Osteoporosis	Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ;	0.469	0.655
Osteoporosis, Senile	Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ;	0.469	0.655
Kidney Failure	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.469	0.655
Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Peripheral T-Cell Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.469	0.655
Osteoarthrosis Deformans	Musculoskeletal Diseases ;	0.469	0.655
Complex partial seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Congenital anemia	N/A	0.469	0.655
Histiocytoid hemangioma	Neoplasms ;	0.469	0.655
Hemangioma, Intramuscular	Neoplasms ;	0.469	0.655
Cholangiocarcinoma	Neoplasms ;	0.469	0.655
Subependymal Glioma	Neoplasms ;	0.469	0.655
Generalized seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Seizures, Clonic	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Ventricular Dysfunction, Left	Cardiovascular Diseases ;	0.469	0.655
Conduction disorder of the heart	Cardiovascular Diseases ;	0.469	0.655
Visual seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Tonic Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Epileptic drop attack	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Adult Oligodendroglioma	Neoplasms ;	0.469	0.655
Childhood Oligodendroglioma	Neoplasms ;	0.469	0.655
Mixed Oligodendroglioma-Astrocytoma	Neoplasms ;	0.469	0.655
Anaplastic astrocytoma	Neoplasms ;	0.469	0.655
Protoplasmic astrocytoma	Neoplasms ;	0.469	0.655
Gemistocytic astrocytoma	Neoplasms ;	0.469	0.655
Fibrillary Astrocytoma	Neoplasms ;	0.469	0.655
Anaplastic Oligodendroglioma	Neoplasms ;	0.469	0.655
Oligodendroblastoma	Neoplasms ;	0.469	0.655
Intrahepatic Cholangiocarcinoma	Neoplasms ;	0.469	0.655
Hematologic Neoplasms	Neoplasms ; Hemic and Lymphatic Diseases ;	0.469	0.655
Craniofacial Abnormalities	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.469	0.655
Seizures, Somatosensory	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Seizures, Auditory	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Olfactory seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Gustatory seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Vertiginous seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Anaplastic Oligoastrocytoma	N/A	0.469	0.655
Tonic - clonic seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Epileptic encephalopathy	N/A	0.469	0.655
Chorioangioma	Neoplasms ;	0.469	0.655
Non-epileptic convulsion	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Single Seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Atonic Absence Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Mixed Oligodendroglioma-Ependymoma	Neoplasms ;	0.469	0.655
Well Differentiated Oligodendroglioma	Neoplasms ;	0.469	0.655
Post-Traumatic Osteoporosis	Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ;	0.469	0.655
Convulsive Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Seizures, Focal	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Seizures, Sensory	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Chondroma	Neoplasms ;	0.469	0.655
Cardiac Hypertrophy	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Renal Insufficiency	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.469	0.655
Glioblastoma Multiforme	Neoplasms ;	0.469	0.655
Enchondroma	Neoplasms ;	0.469	0.655
Glioma of Brain, Familial	Neoplasms ; Nervous System Diseases ;	0.469	0.655
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.469	0.655
Angioma	Neoplasms ;	0.469	0.655
Combined D-2- and L-2-hydroxyglutaric aciduria	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.469	0.655
GLIOMA SUSCEPTIBILITY 1	N/A	0.469	0.655
D-2-HYDROXYGLUTARIC ACIDURIA 2	N/A	0.469	0.655
D-2-HYDROXYGLUTARIC ACIDURIA 1	N/A	0.469	0.655
Nonepileptic Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.469	0.655
Extrahepatic Cholangiocarcinoma	Neoplasms ;	0.469	0.655
Convulsions	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Absence Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Epileptic Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Myoclonic Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
Generalized Absence Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.469	0.655
NO RESULT FOUND

Description:	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:5383]
Synonyms:	NADP-IDH, IDHM, D2HGA2, IDPM, IDH, IDP, ICD-M
Other ID(s):	HGNC:5383, ENSG00000182054
Protein Accession Numbers:	ENST00000560061, ENST00000539790, NP_001277043, ENST00000559482, ENST00000330062.3, NP_001276839, ENST00000540499, ENST00000330062, NP_002159
Statistics:	gnomAD(285) COSMIC(847)

Classification of Clinicial Significance of ClinVar Data