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

Inframe Insertion

Missense Variant

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
4-106155108-G-A	ENST00000394764	p.Gln3Gln	Synonymous Variant	0	0	0	rs183431550
4-106155109-G-C	ENST00000394764	p.Asp4His	Missense Variant	0	0	0	rs1465868048
4-106155109-G-T	ENST00000394764	p.Asp4Tyr	Missense Variant	0	0	0	rs1465868048
4-106155112-A-G	ENST00000394764	p.Arg5Gly	Missense Variant	0	0	0	rs749172180
4-106155113-G-C	ENST00000394764	p.Arg5Thr	Missense Variant	0	0	0	rs568091851
4-106155114-A-G	ENST00000394764	p.Arg5Arg	Synonymous Variant	0	0	0	rs200508474
4-106155115-A-G	ENST00000394764	p.Thr6Ala	Missense Variant	0	0	0	rs745910165
4-106155120-C-T	ENST00000394764	p.Asn7Asn	Synonymous Variant	0	0	0	rs1369646936
4-106155121-C-G	ENST00000394764	p.His8Asp	Missense Variant	20	31400	0.000637	rs147112198
4-106155121-C-T	ENST00000394764	p.His8Tyr	Missense Variant	0	0	0	rs147112198
4-106155123-T-C	ENST00000394764	p.His8His	Synonymous Variant	0	0	0	rs1281520653
4-106155124-G-A	ENST00000394764	p.Val9Ile	Missense Variant	0	0	0	rs1322914073
4-106155130-G-A	ENST00000394764	p.Gly11Ser	Missense Variant	0	0	0	rs775632921
4-106155131-G-T	ENST00000394764	p.Gly11Val	Missense Variant	1	31396	0.000032	rs747188735
4-106155136-A-C	ENST00000394764	p.Arg13Arg	Synonymous Variant	73	31402	0.002325	rs146373819
4-106155143-G-A	ENST00000394764	p.Ser15Asn	Missense Variant	0	0	0	rs1436240000
4-106155150-C-T	ENST00000394764	p.Phe17Phe	Synonymous Variant	0	0	0	rs1204300917
4-106155155-T-A	ENST00000394764	p.Ile19Lys	Missense Variant	0	0	0	rs1247584944
4-106155173-G-T	ENST00000394764	p.Cys25Phe	Missense Variant	0	0	0	rs762289112
4-106155179-C-G	ENST00000394764	p.Thr27Arg	Missense Variant	0	0	0	rs765788512

Showing 1 to 20 of 1,218 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)

Complex - Frameshift

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Insertion - In Frame

Nonstop Extension

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	Position
TET2_ENST00000305737	ENST00000305737	AML_322	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	27505994	c.1873del	p.T625Hfs*14	Deletion - Frameshift			Variant of unknown origin	PMID: 27288520	primary	625
TET2_ENST00000305737	ENST00000305737	TCGA-DH-5142-01	central_nervous_system	glioma	27514088	c.1735C>G	p.L579V	Substitution - Missense	NEUTRAL	.20924	Confirmed somatic variant	PMID: N/A	NS	579
TET2_ENST00000305737	ENST00000305737	2080308	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	27510711	c.3275del	p.P1092Qfs*14	Deletion - Frameshift			Variant of unknown origin	PMID: 24045501	secondary	1092
TET2_ENST00000305737	ENST00000305737	TCGA-A3-3346-01	kidney	carcinoma	27513097	c.1800G>A	p.M600I	Substitution - Missense	NEUTRAL	.18048	Variant of unknown origin	PMID: N/A	primary	600
TET2_ENST00000305737	ENST00000305737	TCGA-A3-3346-01	kidney	carcinoma	27507462	c.1660C>T	p.P554S	Substitution - Missense	NEUTRAL	.23537	Reported in another cancer sample as somatic	PMID: N/A	primary	554
TET2_ENST00000305737	ENST00000305737	P116	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	27517757	c.2400_2401del	p.H800Qfs*15	Deletion - Frameshift			Variant of unknown origin	PMID: 32187361	NS	800
TET2_ENST00000305737	ENST00000305737	467	oesophagus	carcinoma	27514326	c.2141C>A	p.S714*	Substitution - Nonsense	PATHOGENIC	.82426	Confirmed somatic variant	PMID: 25151357	primary	714
TET2_ENST00000305737	ENST00000305737	1657177	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	27505464	c.1664dup	p.T556Nfs*11	Insertion - Frameshift			Variant of unknown origin	PMID: 22116554	NS	556
TET2_ENST00000305737	ENST00000305737	P-0005151-T01-IM5	large_intestine	carcinoma	27514744	c.3214G>A	p.A1072T	Substitution - Missense	PATHOGENIC	.85479	Confirmed somatic variant	PMID: 28481359	primary	1072
TET2_ENST00000305737	ENST00000305737	2108197	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	27513173	c.323A>T	p.Q108L	Substitution - Missense	PATHOGENIC	.85783	Confirmed somatic variant	PMID: 24478400	NS	108
TET2_ENST00000305737	ENST00000305737	1799695	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	27500589	c.1648C>T	p.R550*	Substitution - Nonsense	NEUTRAL	.15032	Reported in another cancer sample as somatic	PMID: 23074272	NS	550
TET2_ENST00000305737	ENST00000305737	2878995	upper_aerodigestive_tract	carcinoma	27517540	c.918del	p.K306Nfs*2	Deletion - Frameshift			Variant of unknown origin	PMID: 33115932	NS	306
TET2_ENST00000305737	ENST00000305737	J32_T	lung	carcinoma	27509716	c.*4514C>T	p.?	Unknown	NEUTRAL	.00216	Confirmed somatic variant	PMID: N/A	NS	0
TET2_ENST00000305737	ENST00000305737	2780661	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	27501699	c.1945C>T	p.Q649*	Substitution - Nonsense	PATHOGENIC	.93125	Reported in another cancer sample as somatic	PMID: 26728869	NS	649
TET2_ENST00000305737	ENST00000305737	CPCG0240-F1	prostate	carcinoma	27511917	c.-47+9537dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
TET2_ENST00000305737	ENST00000305737	PD6466b	NS	NS	27508490	c.-168C>G	p.?	Unknown	NEUTRAL	.32965	Confirmed somatic variant	PMID: N/A	primary	0
TET2_ENST00000305737	ENST00000305737	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	27508561	c.-192-21780T>A	p.?	Unknown	NEUTRAL	.01367	Confirmed somatic variant	PMID: N/A	primary	0
TET2_ENST00000305737	ENST00000305737	PD8735a	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	27507652	c.1842dup	p.L615Afs*23	Insertion - Frameshift			Confirmed somatic variant	PMID: 24030381	NS	615
TET2_ENST00000305737	ENST00000305737	2108163	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	27502143	c.2671C>T	p.Q891*	Substitution - Nonsense	NEUTRAL	.47084	Confirmed somatic variant	PMID: 24478400	NS	891
TET2_ENST00000305737	ENST00000305737	5-GE015-T4	skin	carcinoma	27510501	c.2498C>T	p.S833F	Substitution - Missense	PATHOGENIC	.87891	Reported in another cancer sample as somatic	PMID: 26950094	NS	833

Showing 1 to 20 of 2,634 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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Primary Myelofibrosis	Hemic and Lymphatic Diseases ;	0.499	0.586
Refractory anemias	Hemic and Lymphatic Diseases ;	0.499	0.586
Refractory anaemia with excess blasts	Hemic and Lymphatic Diseases ;	0.499	0.586
Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
Cytopenia	N/A	0.499	0.586
Angioimmunoblastic Lymphadenopathy	Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.499	0.586
Leukemia, Myelocytic, Acute	Neoplasms ;	0.499	0.586
Leukemia, Myelomonocytic, Chronic	Neoplasms ; Hemic and Lymphatic Diseases ;	0.499	0.586
Acute Promyelocytic Leukemia	Neoplasms ;	0.499	0.586
Myelofibrosis	N/A	0.499	0.586
Neoplasm Recurrence, Local	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.499	0.586
Polycythemia Vera	Neoplasms ; Hemic and Lymphatic Diseases ;	0.499	0.586
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.499	0.586
Sezary Syndrome	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.499	0.586
Thrombocythemia, Essential	Hemic and Lymphatic Diseases ;	0.499	0.586
Peripheral T-Cell Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.499	0.586
Congenital anemia	N/A	0.499	0.586
Conventional (Clear Cell) Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
secondary acute myeloid leukemia	N/A	0.499	0.586
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.499	0.586
Refractory anemia with ringed sideroblasts	N/A	0.499	0.586
Chromophobe Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
Sarcomatoid Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
Collecting Duct Carcinoma of the Kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
Acute myeloid leukemia with multilineage dysplasia	N/A	0.499	0.586
Papillary Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
Hematopoetic Myelodysplasia	Hemic and Lymphatic Diseases ;	0.499	0.586
MYELODYSPLASTIC SYNDROME	Hemic and Lymphatic Diseases ;	0.499	0.586
NO RESULT FOUND

Description:	tet methylcytosine dioxygenase 2 [Source:HGNC Symbol;Acc:HGNC:25941]
Synonyms:	KIAA1546, MDS
Other ID(s):	HGNC:25941, ENSG00000168769
Protein Accession Numbers:	ENST00000380013, NP_001120680, ENST00000540549, ENST00000413648, ENST00000305737, ENST00000545826, ENST00000514870, ENST00000394764, NP_060098, ENST00000265149, ENST00000540549.1, ENST00000513237
Statistics:	ClinVar(37) gnomAD(1218) COSMIC(2634)

Classification of Clinicial Significance of ClinVar Data