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

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
10-29769462-T-G	ENST00000538146	p.Ter586SerextTer1	Stop Lost	0	0	0	rs200885430
10-29769470-C-T	ENST00000538146	p.Thr583Thr	Synonymous Variant	5	31406	0.000159	rs146808407
10-29769471-G-A	ENST00000538146	p.Thr583Met	Missense Variant	0	0	0	rs746902705
10-29769475-T-G	ENST00000538146	p.Ser582Arg	Missense Variant	0	0	0	rs1293624361
10-29769480-A-G	ENST00000538146	p.Met580Thr	Missense Variant	0	0	0	rs768641043
10-29769481-T-C	ENST00000538146	p.Met580Val	Missense Variant	0	0	0	rs373133837
10-29769485-C-G	ENST00000538146	p.Lys578Asn	Missense Variant	0	0	0	rs1289884169
10-29769490-A-C	ENST00000538146	p.Trp577Gly	Missense Variant	5	31382	0.000159	rs765603736
10-29769494-G-A	ENST00000538146	p.Val575Val	Synonymous Variant	0	0	0	rs1259915850
10-29769497-C-T	ENST00000538146	p.Val574Val	Synonymous Variant	1	31404	0.000032	rs1447499276
10-29769501-T-C	ENST00000538146	p.Tyr573Cys	Missense Variant	0	0	0	rs763416222
10-29769501-T-G	ENST00000538146	p.Tyr573Ser	Missense Variant	1	31396	0.000032	rs763416222
10-29769504-G-A	ENST00000538146	p.Ala572Val	Missense Variant	0	0	0
10-29769509-C-G	ENST00000538146	p.Gly570Gly	Synonymous Variant	0	0	0	rs766708746
10-29769512-C-G	ENST00000538146	p.Glu569Asp	Missense Variant	0	0	0	rs752029568
10-29769515-A-G	ENST00000538146	p.His568His	Synonymous Variant	0	0	0	rs755474825
10-29769516-T-C	ENST00000538146	p.His568Arg	Missense Variant	0	0	0	rs767883010
10-29769519-A-T	ENST00000538146	p.Phe567Tyr	Missense Variant	0	0	0	rs753398500
10-29769524-C-T	ENST00000538146	p.Gly565Gly	Synonymous Variant	0	0	0	rs375051073
10-29769526-C-T	ENST00000538146	p.Gly565Arg	Missense Variant	1	31392	0.000032	rs778601433

Showing 1 to 20 of 522 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 - 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	Position
SVIL_ENST00000538146	ENST00000538146	8057490	pancreas	carcinoma	82343908	c.862-264C>G	p.?	Unknown	NEUTRAL	.04862	Confirmed somatic variant	PMID: N/A	NS	0
SVIL_ENST00000538146	ENST00000538146	J32_T	lung	carcinoma	82342259	c.130+17C>T	p.?	Unknown	NEUTRAL	.04992	Confirmed somatic variant	PMID: N/A	NS	0
SVIL_ENST00000538146	ENST00000538146	GCTK_397_T	stomach	carcinoma	82344444	c.131-18C>T	p.?	Unknown	NEUTRAL	.00603	Confirmed somatic variant	PMID: N/A	primary	0
SVIL_ENST00000538146	ENST00000538146	CPCG0237-F1	prostate	carcinoma	82343507	c.1331+673dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
SVIL_ENST00000538146	ENST00000538146	J32_T	lung	carcinoma	82341693	c.152T>C	p.M51T	Substitution - Missense	PATHOGENIC	.99626	Confirmed somatic variant	PMID: N/A	NS	51
SVIL_ENST00000538146	ENST00000538146	GBM20-R3	central_nervous_system	glioma	82342660	c.770C>T	p.A257V	Substitution - Missense	PATHOGENIC	.97736	Confirmed somatic variant	PMID: 28263318	recurrent	257
SVIL_ENST00000538146	ENST00000538146	1255_T	lung	carcinoma	82342196	c.1477-8C>T	p.?	Unknown	NEUTRAL	.09182	Confirmed somatic variant	PMID: N/A	NS	0
SVIL_ENST00000538146	ENST00000538146	TCGA-CG-4476-01	stomach	carcinoma	82344138	c.1584T>A	p.Y528*	Substitution - Nonsense	NEUTRAL	.442	Confirmed somatic variant	PMID: N/A	NS	528
SVIL_ENST00000538146	ENST00000538146	ZZUFHECRKL-G003T	oesophagus	carcinoma	82343591	c.724+95G>C	p.?	Unknown	NEUTRAL	.04032	Confirmed somatic variant	PMID: N/A	primary	0
SVIL_ENST00000538146	ENST00000538146	RK025_C01	liver	carcinoma	82341818	c.132T>G	p.D44E	Substitution - Missense	PATHOGENIC	.74972	Reported in another cancer sample as somatic	PMID: N/A	primary	44
SVIL_ENST00000538146	ENST00000538146	NPC34F	upper_aerodigestive_tract	carcinoma	82344039	c.623A>G	p.E208G	Substitution - Missense	PATHOGENIC	.99317	Confirmed somatic variant	PMID: 24952746	primary	208
SVIL_ENST00000538146	ENST00000538146	CAL33	upper_aerodigestive_tract	carcinoma	82341716	c.79C>G	p.P27A	Substitution - Missense	PATHOGENIC	.97678	Reported in another cancer sample as somatic	PMID: 25275298	NS	27
SVIL_ENST00000538146	ENST00000538146	T2992	large_intestine	carcinoma	82342670	c.1507G>A	p.D503N	Substitution - Missense	PATHOGENIC	.9137	Confirmed somatic variant	PMID: 27149842	NS	503
SVIL_ENST00000538146	ENST00000538146	T4430	large_intestine	carcinoma	82343480	c.1156-45G>A	p.?	Unknown	NEUTRAL	.0355	Confirmed somatic variant	PMID: 27149842	NS	0
SVIL_ENST00000538146	ENST00000538146	T3152	large_intestine	carcinoma	82343438	c.975C>T	p.F325=	Substitution - coding silent	PATHOGENIC	.94756	Confirmed somatic variant	PMID: 25344691	NS	325
SVIL_ENST00000538146	ENST00000538146	RK079_C01	liver	carcinoma	82344972	c.217+407A>C	p.?	Unknown	NEUTRAL	.31503	Variant of unknown origin	PMID: N/A	primary	0
SVIL_ENST00000538146	ENST00000538146	2014_SWES_16_DX	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82341724	c.204G>A	p.R68=	Substitution - coding silent	PATHOGENIC	.73304	Confirmed somatic variant	PMID: N/A	primary	68
SVIL_ENST00000538146	ENST00000538146	CAL33	upper_aerodigestive_tract	carcinoma	82341693	c.152T>C	p.M51T	Substitution - Missense	PATHOGENIC	.99626	Reported in another cancer sample as somatic	PMID: 25275298	NS	51
SVIL_ENST00000538146	ENST00000538146	FU97	stomach	carcinoma	82343617	c.724G>A	p.G242R	Substitution - Missense	PATHOGENIC	.98747	Variant of unknown origin	PMID: 24807215	NS	242
SVIL_ENST00000538146	ENST00000538146	2014_Lung_sq_102_T	lung	carcinoma	82342037	c.396-29T>C	p.?	Unknown	NEUTRAL	.00994	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 260 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
PF00626	Gelsolin	Gelsolin repeat	1409-1477	CL0092	ADF	Mus musculus
PF02209	VHP	Villin headpiece domain	2135-2170			Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.857	0.103
Acute Myeloid Leukemia, M1	Neoplasms ;	0.857	0.103
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.857	0.103
NO RESULT FOUND

Description:	supervillin [Source:HGNC Symbol;Acc:HGNC:11480]
Synonyms:
Other ID(s):	ENSG00000197321, HGNC:11480
Protein Accession Numbers:	ENST00000538146, ENST00000375398, NP_001310529, ENST00000535393, ENST00000355867, NP_068506, NP_001310528, ENST00000375400, NP_003165
Statistics:	gnomAD(522) COSMIC(260)

Classification of Clinicial Significance of ClinVar Data