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

Protein Altering Variant

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
7-151833919-A-G	ENST00000262189	p.Ter4912ArgextTer36	Stop Lost	1	31404	0.000032	rs1412723087
7-151833921-T-C	ENST00000262189	p.Asn4911Ser	Missense Variant	0	0	0	rs1232665404
7-151833939-T-C	ENST00000262189	p.Asn4905Ser	Missense Variant	0	0	0	rs751058113
7-151833943-C-T	ENST00000262189	p.Val4904Met	Missense Variant	0	0	0	rs1303291860
7-151833959-C-T	ENST00000262189	p.Pro4898Pro	Synonymous Variant	2	31402	0.000064	rs146009167
7-151833960-G-A	ENST00000262189	p.Pro4898Leu	Missense Variant	2	31404	0.000064	rs368866050
7-151833967-T-C	ENST00000262189	p.Lys4896Glu	Missense Variant	0	0	0	rs1446029428
7-151833968-G-A	ENST00000262189	p.His4895His	Synonymous Variant	0	0	0	rs755902690
7-151833972-T-G	ENST00000262189	p.Gln4894Pro	Missense Variant	0	0	0	rs1254588381
7-151833994-T-G	ENST00000262189	p.Lys4887Gln	Missense Variant	0	0	0	rs779818288
7-151834002-T-C	ENST00000262189	p.Tyr4884Cys	Missense Variant	0	0	0	rs748426014
7-151835896-G-A	ENST00000262189	p.Ile4876Ile	Synonymous Variant	1	31394	0.000032	rs1412210521
7-151835900-C-T	ENST00000262189	p.Arg4875Lys	Missense Variant	0	0	0	rs770959288
7-151835903-C-T	ENST00000262189	p.Arg4874Gln	Missense Variant	0	0	0	rs1448088311
7-151835908-G-A	ENST00000262189	p.Ser4872Ser	Synonymous Variant	0	0	0	rs555789247
7-151835911-G-A	ENST00000262189	p.Ser4871Ser	Synonymous Variant	0	0	0	rs1353129618
7-151835912-C-G	ENST00000262189	p.Ser4871Thr	Missense Variant	0	0	0	rs746423251
7-151835912-C-T	ENST00000262189	p.Ser4871Asn	Missense Variant	0	0	0	rs746423251
7-151835930-C-T	ENST00000262189	p.Gly4865Glu	Missense Variant	1	31376	0.000032	rs770369091
7-151835933-C-G	ENST00000262189	p.Arg4864Thr	Missense Variant	0	0	0	rs776004398

Showing 1 to 20 of 3,974 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
KMT2C	Q8NEZ4	Phosphorylation	1043	T1043-p	CLDPPLQtVPKGGWK	541.37	36419906
KMT2C	Q8NEZ4	Phosphorylation	111	S111-p	LIPTLQRsVsEEsAN	541.37	40721985
KMT2C	Q8NEZ4	Phosphorylation	113	S113-p	PTLQRsVsEEsANsL	541.37	3983555
KMT2C	Q8NEZ4	Phosphorylation	116	S116-p	QRsVsEEsANsLVSV	541.37	25173797
KMT2C	Q8NEZ4	Phosphorylation	119	S119-p	VsEEsANsLVSVGVE	541.37	22350373
KMT2C	Q8NEZ4	Phosphorylation	1219	T1219-p	NSVAVLQtPPDIQsE	541.37	18012274
KMT2C	Q8NEZ4	Phosphorylation	1225	S1225-p	QtPPDIQsEHsRDGE	541.37	56817669
KMT2C	Q8NEZ4	Phosphorylation	1228	S1228-p	PDIQsEHsRDGEMDD	541.37	56817671
KMT2C	Q8NEZ4	Phosphorylation	1248	S1248-p	LMDCDGKsEssPERE	541.37	22350376
KMT2C	Q8NEZ4	Phosphorylation	1250	S1250-p	DCDGKsEssPEREAV	541.37	22350379
KMT2C	Q8NEZ4	Phosphorylation	1251	S1251-p	CDGKsEssPEREAVD	541.37	22350382
KMT2C	Q8NEZ4	Phosphorylation	1278	Y1278-p	KKRKRKPyRPGIGGF	541.37	23126429
KMT2C	Q8NEZ4	Phosphorylation	1301	S1301-p	GQGKTKRsVIRKDsS	541.37	18911777
KMT2C	Q8NEZ4	Phosphorylation	1307	S1307-p	RsVIRKDsSGsISEQ	541.37	15427161
KMT2C	Q8NEZ4	Phosphorylation	1310	S1310-p	IRKDsSGsISEQLPC	541.37	56663899
KMT2C	Q8NEZ4	Phosphorylation	1379	S1379-p	LLDTSRQskISLDNL	541.37	23126400
KMT2C	Q8NEZ4	Ubiquitination	1380	K1380-ub	LDTSRQskISLDNLs	541.37	964527450
KMT2C	Q8NEZ4	Phosphorylation	1387	S1387-p	kISLDNLsEDGAQLL	541.37	36137065
KMT2C	Q8NEZ4	Phosphorylation	1395	Y1395-p	EDGAQLLyKTNMNTG	541.37	23126432
KMT2C	Q8NEZ4	Phosphorylation	143	S143-p	FCYCGEKsSLGQGDL	541.37	56663897

Showing 1 to 20 of 140 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Complex - Frameshift

Deletion - Frameshift

Deletion - In Frame

Frameshift

Insertion - Frameshift

Insertion - In Frame

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
KMT2C	ENST00000262189	P-0002490-T01-IM3	NS	malignant_melanoma	23277699	c.6604C>T	p.P2202S	Substitution - Missense	PATHOGENIC	.96317	Confirmed somatic variant	PMID: 28481359	metastasis	2202
KMT2C	ENST00000262189	286	stomach	carcinoma	23259653	c.3724dup	p.M1242Nfs*4	Insertion - Frameshift			Confirmed somatic variant	PMID: N/A	primary	1242
KMT2C	ENST00000262189	LICA-CN-HCC079T	liver	other	23238621	c.1611G>T	p.E537D	Substitution - Missense	PATHOGENIC	.82158	Confirmed somatic variant	PMID: N/A	primary	537
KMT2C	ENST00000262189	0213_CRUK_PC_0213_T1_DNA	prostate	carcinoma	23225987	c.5009-808G>A	p.?	Unknown	NEUTRAL	.00911	Confirmed somatic variant	PMID: N/A	primary	0
KMT2C	ENST00000262189	8060606	pancreas	carcinoma	23255141	c.162-4G>T	p.?	Unknown	NEUTRAL	.01453	Confirmed somatic variant	PMID: N/A	primary	0
KMT2C	ENST00000262189	RK234_C01	liver	carcinoma	23210886	c.162-5986T>C	p.?	Unknown	NEUTRAL	.00127	Confirmed somatic variant	PMID: N/A	primary	0
KMT2C	ENST00000262189	TCGA-66-2778-01	lung	carcinoma	23209411	c.1290G>C	p.W430C	Substitution - Missense	PATHOGENIC	.9828	Reported in another cancer sample as somatic	PMID: N/A	primary	430
KMT2C	ENST00000262189	DLBCL833	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	23235545	c.10763C>T	p.S3588L	Substitution - Missense	PATHOGENIC	.98072	Confirmed somatic variant	PMID: 23292937	primary	3588
KMT2C	ENST00000262189	P-0004176-T01-IM5	urinary_tract	carcinoma	23253380	c.10880C>T	p.S3627L	Substitution - Missense	PATHOGENIC	.98138	Confirmed somatic variant	PMID: 28481359	primary	3627
KMT2C	ENST00000262189	TCGA-DA-A1HY-06	skin	malignant_melanoma	23254236	c.850-1G>A	p.?	Unknown	PATHOGENIC	.97737	Confirmed somatic variant	PMID: N/A	NS	0
KMT2C	ENST00000262189	MG-100-tumor	meninges	meningioma	23192879	c.850-7C>T	p.?	Unknown	NEUTRAL	.11327	Variant of unknown origin	PMID: 28713588	NS	0
KMT2C	ENST00000262189	MG-100-tumor	meninges	meningioma	23198001	c.389+213C>G	p.?	Unknown	NEUTRAL	.00027	Variant of unknown origin	PMID: 28713588	NS	0
KMT2C	ENST00000262189	MG-100-tumor	meninges	meningioma	23237022	c.7150-184G>A	p.?	Unknown	NEUTRAL	.00056	Variant of unknown origin	PMID: 28713588	NS	0
KMT2C	ENST00000262189	MG-100-tumor	meninges	meningioma	23198556	c.11961-133C>G	p.?	Unknown	NEUTRAL	.10646	Variant of unknown origin	PMID: 28713588	NS	0
KMT2C	ENST00000262189	MG-100-tumor	meninges	meningioma	23197967	c.1577G>C	p.R526P	Substitution - Missense	NEUTRAL	.01601	Reported in another cancer sample as somatic	PMID: 28713588	NS	526
KMT2C	ENST00000262189	MG-100-tumor	meninges	meningioma	23197825	c.14032-17G>A	p.?	Unknown	NEUTRAL	.06473	Reported in another cancer sample as somatic	PMID: 28713588	NS	0
KMT2C	ENST00000262189	MG-100-tumor	meninges	meningioma	23192755	c.850-30A>G	p.?	Unknown	NEUTRAL	.07898	Reported in another cancer sample as somatic	PMID: 28713588	NS	0
KMT2C	ENST00000262189	MG-100-tumor	meninges	meningioma	23195420	c.2769+80T>A	p.?	Unknown	NEUTRAL	.0262	Reported in another cancer sample as somatic	PMID: 28713588	NS	0
KMT2C	ENST00000262189	MG-100-tumor	meninges	meningioma	23197873	c.8040G>A	p.Q2680=	Substitution - coding silent	NEUTRAL	.26501	Reported in another cancer sample as somatic	PMID: 28713588	NS	2680
KMT2C	ENST00000262189	MG-100-tumor	meninges	meningioma	23195449	c.2532+26A>T	p.?	Unknown	NEUTRAL	.0599	Reported in another cancer sample as somatic	PMID: 28713588	NS	0

Showing 1 to 20 of 5,502 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
PF00628	PHD	PHD-finger	1009-1057	CL0390	zf-FYVE-PHD	Homo sapiens
PF00628	PHD	PHD-finger	390-438	CL0390	zf-FYVE-PHD	Homo sapiens
PF00628	PHD	PHD-finger	959-1010	CL0390	zf-FYVE-PHD	Homo sapiens
PF00856	SET	SET domain	4782-4887			Homo sapiens
PF05964	FYRN	F/Y-rich N-terminus	4551-4602			Homo sapiens
PF05965	FYRC	F/Y rich C-terminus	4608-4692			Homo sapiens
PF13771	zf-HC5HC2H	PHD-like zinc-binding domain	252-331	CL0390	zf-FYVE-PHD	Homo sapiens
PF13832	zf-HC5HC2H_2	PHD-zinc-finger like domain	4400-4512	CL0390	zf-FYVE-PHD	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Adenocarcinoma	Neoplasms ;	0.604	0.621
Malignant neoplasm of urinary bladder	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.604	0.621
Bladder Neoplasm	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.604	0.621
Carcinoma, Transitional Cell	Neoplasms ;	0.604	0.621
Adenoid Cystic Carcinoma	Neoplasms ;	0.604	0.621
Leukemia, Myelocytic, Acute	Neoplasms ;	0.604	0.621
Liver Diseases, Parasitic	Parasitic Diseases ; Digestive System Diseases ;	0.604	0.621
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Acute Myeloid Leukemia, M1	Neoplasms ;	0.604	0.621
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.604	0.621
Sezary Syndrome	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.604	0.621
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Adenocarcinoma, Basal Cell	Neoplasms ;	0.604	0.621
Adenocarcinoma, Oxyphilic	Neoplasms ;	0.604	0.621
Carcinoma, Cribriform	Neoplasms ;	0.604	0.621
Carcinoma, Granular Cell	Neoplasms ;	0.604	0.621
Adenocarcinoma, Tubular	Neoplasms ;	0.604	0.621
Cholangiocarcinoma	Neoplasms ;	0.604	0.621
Squamous cell carcinoma of esophagus	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Intrahepatic Cholangiocarcinoma	Neoplasms ;	0.604	0.621
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.604	0.621
Kleefstra Syndrome	Musculoskeletal Diseases ; Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.604	0.621
Colorectal Cancer	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Neurodevelopmental Disorders	Mental Disorders ;	0.604	0.621
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.604	0.621
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.604	0.621
Extrahepatic Cholangiocarcinoma	Neoplasms ;	0.604	0.621
NO RESULT FOUND

Description:	lysine methyltransferase 2C [Source:HGNC Symbol;Acc:HGNC:13726]
Synonyms:	HALR, MLL3
Other ID(s):	HGNC:13726, ENSG00000055609
Protein Accession Numbers:	ENST00000558665, ENST00000355193, ENST00000452749, ENST00000418061, ENST00000558084, ENST00000262189.6, ENST00000424877, NP_733751, ENST00000360104, ENST00000485655, ENST00000262189, ENST00000418673
Statistics:	ClinVar(225) gnomAD(3974) COSMIC(5502) PTM(140)

Classification of Clinicial Significance of ClinVar Data