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

Inframe Deletion

Inframe Insertion

Missense Variant

Protein Altering Variant

Splice Region Variant

Start Lost

Stop Gained

Stop Retained Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
1-25228614-C-T	ENST00000540420	p.Ter323Ter	Stop Retained Variant	0	0	0	rs1315708824
1-25228616-G-A	ENST00000540420	p.Tyr322Tyr	Synonymous Variant	1	31368	0.000032	rs974915355
1-25228623-C-T	ENST00000540420	p.Arg320Gln	Missense Variant	1	31378	0.000032	rs754460038
1-25228628-C-T	ENST00000540420	p.Val318Val	Synonymous Variant	0	0	0	rs1269312801
1-25228630-C-T	ENST00000540420	p.Val318Met	Missense Variant	0	0	0	rs1339675309
1-25228631-G-A	ENST00000540420	p.Ala317Ala	Synonymous Variant	0	0	0	rs780748946
1-25228642-T-C	ENST00000540420	p.Met314Val	Missense Variant	1	31372	0.000032	rs747787589
1-25228643-G-A	ENST00000540420	p.Arg313Arg	Synonymous Variant	0	0	0	rs1460519421
1-25228644-C-T	ENST00000540420	p.Arg313His	Missense Variant	0	0	0	rs754344195
1-25228650-G-A	ENST00000540420	p.Pro311Leu	Missense Variant	0	0	0	rs1258949457
1-25228652-C-A	ENST00000540420	p.Thr310Thr	Synonymous Variant	0	0	0	rs373133104
1-25228653-G-A	ENST00000540420	p.Thr310Met	Missense Variant	0	0	0	rs1192925649
1-25228655-G-A	ENST00000540420	p.Ser309Ser	Synonymous Variant	3	31388	0.000096	rs145354992
1-25228655-G-T	ENST00000540420	p.Ser309Arg	Missense Variant	0	0	0	rs145354992
1-25228662-G-A	ENST00000540420	p.Ala307Val	Missense Variant	0	0	0	rs1476523757
1-25228664-C-T	ENST00000540420	p.Thr306Thr	Synonymous Variant	0	0	0	rs749580286
1-25228665-G-A	ENST00000540420	p.Thr306Met	Missense Variant	0	0	0	rs1428817440
1-25228667-G-A	ENST00000540420	p.Pro305Pro	Synonymous Variant	0	0	0	rs771352048
1-25228677-C-T	ENST00000540420	p.Ser302Asn	Missense Variant	0	0	0	rs1338778460
1-25228680-T-C	ENST00000540420	p.His301Arg	Missense Variant	0	0	0	rs1404279918

Showing 1 to 20 of 304 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)

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
RUNX3_ENST00000540420	ENST00000540420	TCGA-GF-A2C7-01	skin	malignant_melanoma	82398526	c.165G>T	p.K55N	Substitution - Missense	PATHOGENIC	.86644	Confirmed somatic variant	PMID: N/A	NS	55
RUNX3_ENST00000540420	ENST00000540420	DA1506C	endometrium	carcinoma	82397623	c.265+2386G>A	p.?	Unknown	NEUTRAL	.11919	Confirmed somatic variant	PMID: N/A	primary	0
RUNX3_ENST00000540420	ENST00000540420	2834130	skin	malignant_melanoma	82397134	c.725G>T	p.G242V	Substitution - Missense	PATHOGENIC	.98696	Variant of unknown origin	PMID: 28296713	primary	242
RUNX3_ENST00000540420	ENST00000540420	AOCS-135-3-1	ovary	carcinoma	82398155	c.424+661C>T	p.?	Unknown	NEUTRAL	.02585	Confirmed somatic variant	PMID: N/A	NS	0
RUNX3_ENST00000540420	ENST00000540420	5-VS056-T1	skin	carcinoma	82399552	c.75C>T	p.S25=	Substitution - coding silent	NEUTRAL	.1688	Confirmed somatic variant	PMID: 26950094	NS	25
RUNX3_ENST00000540420	ENST00000540420	5-VS056-T1	skin	carcinoma	82399546	c.731C>T	p.S244F	Substitution - Missense	PATHOGENIC	.96669	Confirmed somatic variant	PMID: 26950094	NS	244
RUNX3_ENST00000540420	ENST00000540420	2834130	skin	malignant_melanoma	82397123	c.952G>A	p.V318M	Substitution - Missense	PATHOGENIC	.98151	Variant of unknown origin	PMID: 28296713	primary	318
RUNX3_ENST00000540420	ENST00000540420	TARGET-10-PAPEWB-09A-01D	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82400514	c.917C>T	p.T306M	Substitution - Missense	PATHOGENIC	.97165	Confirmed somatic variant	PMID: N/A	primary	306
RUNX3_ENST00000540420	ENST00000540420	TCGA-IB-AAUQ-01	pancreas	carcinoma	82397779	c.570G>A	p.T190=	Substitution - coding silent	NEUTRAL	.38735	Confirmed somatic variant	PMID: N/A	primary	190
RUNX3_ENST00000540420	ENST00000540420	DCG_04	central_nervous_system	glioma	82397445	c.616G>A	p.A206T	Substitution - Missense		.59485	Confirmed somatic variant	PMID: 28852847	NS	206
RUNX3_ENST00000540420	ENST00000540420	TCGA-AA-3492-01	large_intestine	carcinoma	82398838	c.212C>T	p.A71V	Substitution - Missense	PATHOGENIC	.96567	Confirmed somatic variant	PMID: N/A	NS	71
RUNX3_ENST00000540420	ENST00000540420	pfg053T	stomach	carcinoma	82398456	c.158G>C	p.R53P	Substitution - Missense	PATHOGENIC	.98891	Confirmed somatic variant	PMID: 24816253	NS	53
RUNX3_ENST00000540420	ENST00000540420	TCGA-EI-6882-01	large_intestine	carcinoma	82399974	c.891C>T	p.A297=	Substitution - coding silent	NEUTRAL	.30209	Confirmed somatic variant	PMID: N/A	primary	297
RUNX3_ENST00000540420	ENST00000540420	TCGA-99-8028-01	lung	carcinoma	82400140	c.149G>T	p.R50L	Substitution - Missense	PATHOGENIC	.98871	Variant of unknown origin	PMID: N/A	primary	50
RUNX3_ENST00000540420	ENST00000540420	TCGA-BR-8487-01	stomach	carcinoma	82397910	c.246C>T	p.D82=	Substitution - coding silent	NEUTRAL	.34631	Confirmed somatic variant	PMID: N/A	NS	82
RUNX3_ENST00000540420	ENST00000540420	169	stomach	carcinoma	82397659	c.96G>T	p.S32=	Substitution - coding silent	NEUTRAL	.06727	Confirmed somatic variant	PMID: 24308032	NS	32
RUNX3_ENST00000540420	ENST00000540420	0005_CRUK_PC_0005_T1_DNA	prostate	carcinoma	82400285	c.266-1885C>T	p.?	Unknown	NEUTRAL	.0247	Confirmed somatic variant	PMID: N/A	primary	0
RUNX3_ENST00000540420	ENST00000540420	TCGA-UY-A78M-01	urinary_tract	carcinoma	82397779	c.570G>A	p.T190=	Substitution - coding silent	NEUTRAL	.38735	Confirmed somatic variant	PMID: N/A	primary	190
RUNX3_ENST00000540420	ENST00000540420	T_CCA_IT_2	biliary_tract	carcinoma	82400234	c.161-1409G>A	p.?	Unknown	NEUTRAL	.00805	Confirmed somatic variant	PMID: N/A	primary	0
RUNX3_ENST00000540420	ENST00000540420	TCGA-EE-A2MR-06	skin	malignant_melanoma	82397407	c.951C>T	p.A317=	Substitution - coding silent	NEUTRAL	.27854	Confirmed somatic variant	PMID: N/A	NS	317

Showing 1 to 20 of 158 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
PF00853	Runt	Runt domain	12-139	CL0073	P53-like	Caenorhabditis elegans

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Adenocarcinoma	Neoplasms ;	0.494	0.69
Celiac Disease	Digestive System Diseases ; Nutritional and Metabolic Diseases ;	0.494	0.69
Esophageal Neoplasms	Neoplasms ; Digestive System Diseases ;	0.494	0.69
Glioblastoma	Neoplasms ;	0.494	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.494	0.69
Lung Neoplasms	Neoplasms ; Respiratory Tract Diseases ;	0.494	0.69
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.494	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.494	0.69
Pustulosis of Palms and Soles	Skin and Connective Tissue Diseases ;	0.494	0.69
Polycystic Ovary Syndrome	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.494	0.69
Psoriasis	Skin and Connective Tissue Diseases ;	0.494	0.69
Ankylosing spondylitis	Musculoskeletal Diseases ;	0.494	0.69
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.494	0.69
Adenocarcinoma, Basal Cell	Neoplasms ;	0.494	0.69
Adenocarcinoma, Oxyphilic	Neoplasms ;	0.494	0.69
Carcinoma, Cribriform	Neoplasms ;	0.494	0.69
Carcinoma, Granular Cell	Neoplasms ;	0.494	0.69
Adenocarcinoma, Tubular	Neoplasms ;	0.494	0.69
Malignant neoplasm of lung	Neoplasms ; Respiratory Tract Diseases ;	0.494	0.69
Giant Cell Glioblastoma	Neoplasms ;	0.494	0.69
Malignant neoplasm of esophagus	Neoplasms ; Digestive System Diseases ;	0.494	0.69
Sclerocystic Ovaries	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.494	0.69
Glioblastoma Multiforme	Neoplasms ;	0.494	0.69
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.494	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.494	0.69
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.494	0.69
NO RESULT FOUND

Description:	runt related transcription factor 3 [Source:HGNC Symbol;Acc:HGNC:10473]
Synonyms:	AML2, PEBP2aC, CBFA3
Other ID(s):	ENSG00000020633, HGNC:10473
Protein Accession Numbers:	ENST00000338888, NP_004341, ENST00000540420, ENST00000308873, NP_001307601, ENST00000399916, NP_001026850
Statistics:	gnomAD(304) COSMIC(158)

Classification of Clinicial Significance of ClinVar Data