ConVarT

ClinVar Data

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

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
2-209101804-T-TA	ENST00000345146	p.Ter415Leu	Frameshift Variant	6	31392	0.000191	rs759303223	lc_lof
2-209101804-T-TA	ENST00000415913	p.Ter415Leu	Frameshift Variant	6	31392	0.000191	rs759303223	lc_lof
2-209101804-T-TA	ENST00000446179	p.Ter415Leu	Frameshift Variant	6	31392	0.000191	rs759303223	lc_lof
2-209101805-A-G	ENST00000345146	p.Ter415GlnextTer4	Stop Lost	1	31394	0.000032	rs1277209814
2-209101805-A-G	ENST00000415913	p.Ter415GlnextTer4	Stop Lost	1	31394	0.000032	rs1277209814
2-209101805-A-G	ENST00000446179	p.Ter415GlnextTer4	Stop Lost	1	31394	0.000032	rs1277209814
2-209101826-T-G	ENST00000345146	p.Lys408Gln	Missense Variant	0	0	0	rs1323632637
2-209101826-T-G	ENST00000415913	p.Lys408Gln	Missense Variant	0	0	0	rs1323632637
2-209101826-T-G	ENST00000446179	p.Lys408Gln	Missense Variant	0	0	0	rs1323632637
2-209101835-A-C	ENST00000345146	p.Leu405Val	Missense Variant	0	0	0	rs1197417192
2-209101835-A-C	ENST00000415913	p.Leu405Val	Missense Variant	0	0	0	rs1197417192
2-209101835-A-C	ENST00000446179	p.Leu405Val	Missense Variant	0	0	0	rs1197417192
2-209101843-C-T	ENST00000345146	p.Gly402Glu	Missense Variant	0	0	0	rs1231130403
2-209101843-C-T	ENST00000415913	p.Gly402Glu	Missense Variant	0	0	0	rs1231130403
2-209101843-C-T	ENST00000446179	p.Gly402Glu	Missense Variant	0	0	0	rs1231130403
2-209101846-A-G	ENST00000345146	p.Leu401Pro	Missense Variant	0	0	0	rs768304856
2-209101846-A-G	ENST00000415913	p.Leu401Pro	Missense Variant	0	0	0	rs768304856
2-209101846-A-G	ENST00000446179	p.Leu401Pro	Missense Variant	0	0	0	rs768304856
2-209101852-T-C	ENST00000345146	p.Asp399Gly	Missense Variant	0	0	0	rs778615461
2-209101852-T-C	ENST00000415913	p.Asp399Gly	Missense Variant	0	0	0	rs778615461

Showing 1 to 20 of 1,041 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
IDH1	O75874	Phosphorylation	106	T106-p	IRNILGGtVFREAII	46.66	27450802
IDH1	O75874	Ubiquitination	126	K126-ub	RLVSGWVkPIIIGRH	46.66	22246026
IDH1	O75874	Acetylation	126	K126-ac	RLVSGWVkPIIIGRH	46.66	474589
IDH1	O75874	Phosphorylation	135	Y135-p	IIIGRHAyGDQyRAT	46.66	473646
IDH1	O75874	Phosphorylation	139	Y139-p	RHAyGDQyRATDFVV	46.66	3999088
IDH1	O75874	Ubiquitination	151	K151-ub	FVVPGPGkVEITyTP	46.66	21176702
IDH1	O75874	Acetylation	151	K151-ac	FVVPGPGkVEITyTP	46.66	19012290
IDH1	O75874	Phosphorylation	156	Y156-p	PGkVEITyTPsDGtQ	46.66	55368938
IDH1	O75874	Phosphorylation	159	S159-p	VEITyTPsDGtQKVT	46.66	54414409
IDH1	O75874	Phosphorylation	162	T162-p	TyTPsDGtQKVTYLV	46.66	54414413
IDH1	O75874	Phosphorylation	188	S188-p	GMYNQDKsIEDFAHS	46.66	56651405
IDH1	O75874	Phosphorylation	19	T19-p	EMQGDEMtRIIWELI	46.66	18010799
IDH1	O75874	Phosphorylation	208	Y208-p	LSKGWPLyLSTkNtI	46.66	3962229
IDH1	O75874	Ubiquitination	212	K212-ub	WPLyLSTkNtILKKy	46.66	27194124
IDH1	O75874	Phosphorylation	214	T214-p	LyLSTkNtILKKyDG	46.66	18010793
IDH1	O75874	Phosphorylation	219	Y219-p	kNtILKKyDGRFkDI	46.66	18010796
IDH1	O75874	Ubiquitination	224	K224-ub	KKyDGRFkDIFQEIy	46.66	22246023
IDH1	O75874	Acetylation	224	K224-ac	KKyDGRFkDIFQEIy	46.66	461114
IDH1	O75874	Phosphorylation	231	Y231-p	kDIFQEIyDkQYksQ	46.66	4933299
IDH1	O75874	Ubiquitination	233	K233-ub	IFQEIyDkQYksQFE	46.66	22246020

Showing 1 to 20 of 52 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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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	Position
IDH1	ENST00000415913	1558737	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 21874255	NS	132
IDH1	ENST00000415913	TCGA-CS-6665-01	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Confirmed somatic variant	PMID: N/A	NS	132
IDH1	ENST00000415913	2148424	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 24511544	secondary	132
IDH1	ENST00000415913	0213_CRUK_PC_0213_T1_DNA	prostate	carcinoma	50618733	c.-16-223C>A	p.?	Unknown	NEUTRAL	.1807	Confirmed somatic variant	PMID: N/A	primary	0
IDH1	ENST00000415913	1174818	central_nervous_system	other	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Confirmed somatic variant	PMID: 18985363	NS	132
IDH1	ENST00000415913	1927810	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 23600211	NS	132
IDH1	ENST00000415913	1752504	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 22904127	NS	132
IDH1	ENST00000415913	2731229	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 29527387	NS	132
IDH1	ENST00000415913	2048286	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 24149775	NS	132
IDH1	ENST00000415913	1298294	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 19915484	NS	132
IDH1	ENST00000415913	2694909	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 29026176	primary	132
IDH1	ENST00000415913	TCGA-HT-7873-01	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Confirmed somatic variant	PMID: N/A	NS	132
IDH1	ENST00000415913	1567077	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 21710625	primary	132
IDH1	ENST00000415913	P-0006019-T01-IM5	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Confirmed somatic variant	PMID: 28481359	primary	132
IDH1	ENST00000415913	2048285	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 24149775	NS	132
IDH1	ENST00000415913	1628434	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 22113362	primary	132
IDH1	ENST00000415913	1240440	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Confirmed somatic variant	PMID: 19636000	NS	132
IDH1	ENST00000415913	81	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 20077503	NS	132
IDH1	ENST00000415913	2310148	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 25261925	NS	132
IDH1	ENST00000415913	1338771	central_nervous_system	glioma	50612006	c.395G>A	p.R132H	Substitution - Missense	PATHOGENIC	.94085	Reported in another cancer sample as somatic	PMID: 20427748	NS	132

Showing 1 to 20 of 13,226 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	9-401	CL0270	Iso_DH	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Biliary Tract Neoplasm	Neoplasms ; Digestive System Diseases ;	0.463	0.69
Brain Neoplasms	Neoplasms ; Nervous System Diseases ;	0.463	0.69
Cytopenia	N/A	0.463	0.69
Dyschondroplasias	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.463	0.69
Enchondromatosis	Musculoskeletal Diseases ;	0.463	0.69
Glioma	Neoplasms ;	0.463	0.69
Hemangioma	Neoplasms ;	0.463	0.69
Childhood Acute Lymphoblastic Leukemia	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.463	0.69
Leukemia, Lymphocytic, Acute, L2	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.463	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.463	0.69
Acute Promyelocytic Leukemia	Neoplasms ;	0.463	0.69
Maffucci Syndrome	Musculoskeletal Diseases ;	0.463	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.463	0.69
Neoplasm Recurrence, Local	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.463	0.69
oligodendroglioma	Neoplasms ;	0.463	0.69
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.463	0.69
Malignant neoplasm of brain	Neoplasms ; Nervous System Diseases ;	0.463	0.69
Congenital anemia	N/A	0.463	0.69
Histiocytoid hemangioma	Neoplasms ;	0.463	0.69
Hemangioma, Intramuscular	Neoplasms ;	0.463	0.69
Cholangiocarcinoma	Neoplasms ;	0.463	0.69
gliosarcoma	Neoplasms ;	0.463	0.69
mixed gliomas	Neoplasms ;	0.463	0.69
Adult Oligodendroglioma	Neoplasms ;	0.463	0.69
Childhood Oligodendroglioma	Neoplasms ;	0.463	0.69
Mixed Oligodendroglioma-Astrocytoma	Neoplasms ;	0.463	0.69
Peroxisomal Disorders	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.463	0.69
Anaplastic astrocytoma	Neoplasms ;	0.463	0.69
Giant Cell Glioblastoma	Neoplasms ;	0.463	0.69
Anaplastic Oligodendroglioma	Neoplasms ;	0.463	0.69
Oligodendroblastoma	Neoplasms ;	0.463	0.69
Intrahepatic Cholangiocarcinoma	Neoplasms ;	0.463	0.69
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.463	0.69
Hematologic Neoplasms	Neoplasms ; Hemic and Lymphatic Diseases ;	0.463	0.69
Malignant Glioma	Neoplasms ;	0.463	0.69
Chorioangioma	Neoplasms ;	0.463	0.69
Mixed Oligodendroglioma-Ependymoma	Neoplasms ;	0.463	0.69
Well Differentiated Oligodendroglioma	Neoplasms ;	0.463	0.69
Chondroma	Neoplasms ;	0.463	0.69
Colorectal Cancer	Neoplasms ; Digestive System Diseases ;	0.463	0.69
Glioblastoma Multiforme	Neoplasms ;	0.463	0.69
Enchondroma	Neoplasms ;	0.463	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.463	0.69
Angioma	Neoplasms ;	0.463	0.69
Precursor Cell Lymphoblastic Leukemia Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.463	0.69
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.463	0.69
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA	N/A	0.463	0.69
Extrahepatic Cholangiocarcinoma	Neoplasms ;	0.463	0.69
NO RESULT FOUND

Description:	isocitrate dehydrogenase (NADP(+)) 1, cytosolic [Source:NCBI gene;Acc:710019]
Synonyms:
Other ID(s):	ENSMMUG00000016077
Protein Accession Numbers:	XP_014966291, XP_014966290, NP_001252708
Statistics:	ClinVar(73) gnomAD(1041) COSMIC(13226) PTM(52)

Classification of Clinicial Significance of ClinVar Data