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

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
10-29747176-T-C	ENST00000375400	p.Ter1789TrpextTer42	Stop Lost	0	0	0	rs749516134
10-29747179-G-C	ENST00000375400	p.Phe1788Leu	Missense Variant	0	0	0	rs368422168
10-29747185-G-T	ENST00000375400	p.Gly1786Gly	Synonymous Variant	0	0	0	rs1280181033
10-29747189-T-G	ENST00000375400	p.Lys1785Thr	Missense Variant	0	0	0	rs779169009
10-29747196-T-G	ENST00000375400	p.Lys1783Gln	Missense Variant	0	0	0	rs1214230500
10-29747197-C-T	ENST00000375400	p.Lys1782Lys	Synonymous Variant	0	0	0	rs1293652870
10-29747198-T-G	ENST00000375400	p.Lys1782Thr	Missense Variant	0	0	0	rs746295622
10-29747204-T-C	ENST00000375400	p.Asn1780Ser	Missense Variant	0	0	0	rs1280764526
10-29747207-A-G	ENST00000375400	p.Val1779Ala	Missense Variant	0	0	0	rs772295960
10-29747213-T-C	ENST00000375400	p.Lys1777Arg	Missense Variant	0	0	0	rs200975665
10-29747218-G-T	ENST00000375400	p.Ala1775Ala	Synonymous Variant	0	0	0	rs1264721278
10-29747220-C-T	ENST00000375400	p.Ala1775Thr	Missense Variant	3	31406	0.000096	rs147771631
10-29747221-G-A	ENST00000375400	p.Pro1774Pro	Synonymous Variant	3168	31374	0.100975	rs41299212
10-29747224-C-T	ENST00000375400	p.Leu1773Leu	Synonymous Variant	0	0	0	rs560831581
10-29747226-G-A	ENST00000375400	p.Leu1773Leu	Synonymous Variant	0	0	0	rs762714816
10-29747228-G-A	ENST00000375400	p.Ala1772Val	Missense Variant	0	0	0	rs766102768
10-29747229-C-T	ENST00000375400	p.Ala1772Thr	Missense Variant	0	0	0	rs751139267
10-29747230-G-A	ENST00000375400	p.Asn1771Asn	Synonymous Variant	0	0	0	rs531901887
10-29747231-T-A	ENST00000375400	p.Asn1771Ile	Missense Variant	1	31402	0.000032	rs1333657470
10-29747237-T-C	ENST00000375400	p.Glu1769Gly	Missense Variant	0	0	0	rs767201784

Showing 1 to 20 of 1,642 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 - Frameshift

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_ENST00000375400	ENST00000375400	H3122	lung	carcinoma	38946473	c.828-1572C>T	p.?	Unknown	NEUTRAL	.22856	Variant of unknown origin	PMID: 29681454	NS	0
SVIL_ENST00000375400	ENST00000375400	EOPC-064_tumor_01	prostate	carcinoma	38954899	c.-400+208C>G	p.?	Unknown	NEUTRAL	.0079	Confirmed somatic variant	PMID: N/A	primary	0
SVIL_ENST00000375400	ENST00000375400	TCGA-G9-6363-01	prostate	carcinoma	38948951	c.778C>A	p.R260=	Substitution - coding silent	PATHOGENIC	.9271	Confirmed somatic variant	PMID: N/A	primary	260
SVIL_ENST00000375400	ENST00000375400	RK234_C01	liver	carcinoma	38946232	c.-201+44054G>T	p.?	Unknown	NEUTRAL	.00159	Confirmed somatic variant	PMID: N/A	primary	0
SVIL_ENST00000375400	ENST00000375400	8057490	pancreas	carcinoma	38950156	c.3208-264C>G	p.?	Unknown	NEUTRAL	.04862	Confirmed somatic variant	PMID: N/A	NS	0
SVIL_ENST00000375400	ENST00000375400	J32_T	lung	carcinoma	38943881	c.2498T>C	p.M833T	Substitution - Missense	PATHOGENIC	.99626	Confirmed somatic variant	PMID: N/A	NS	833
SVIL_ENST00000375400	ENST00000375400	GCTK_397_T	stomach	carcinoma	38953540	c.2477-18C>T	p.?	Unknown	NEUTRAL	.00603	Confirmed somatic variant	PMID: N/A	primary	0
SVIL_ENST00000375400	ENST00000375400	TCGA-CV-5439-01	upper_aerodigestive_tract	carcinoma	38948043	c.827+5508G>A	p.?	Unknown	NEUTRAL	.00759	Confirmed somatic variant	PMID: N/A	NS	0
SVIL_ENST00000375400	ENST00000375400	HCC72T	liver	carcinoma	38945796	c.-201+14185C>A	p.?	Unknown	PATHOGENIC	.90408	Variant of unknown origin	PMID: N/A	primary	0
SVIL_ENST00000375400	ENST00000375400	T_CCA_TH_12	biliary_tract	carcinoma	38945014	c.-400+8010_-400+8012del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
SVIL_ENST00000375400	ENST00000375400	CHOL13	biliary_tract	carcinoma	38946943	c.1981G>A	p.D661N	Substitution - Missense	PATHOGENIC	.97692	Confirmed somatic variant	PMID: 24185509	NS	661
SVIL_ENST00000375400	ENST00000375400	CPCG0237-F1	prostate	carcinoma	38948630	c.3677+673dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
SVIL_ENST00000375400	ENST00000375400	98216	stomach	carcinoma	38944389	c.4309A>G	p.M1437V	Substitution - Missense	PATHOGENIC	.98642	Confirmed somatic variant	PMID: 24807215	primary	1437
SVIL_ENST00000375400	ENST00000375400	PD_03	skin	carcinoma	38955596	c.1507C>T	p.Q503*	Substitution - Nonsense	PATHOGENIC	.76362	Confirmed somatic variant	PMID: 24662767	NS	503
SVIL_ENST00000375400	ENST00000375400	J32_T	lung	carcinoma	38944991	c.2476+17C>T	p.?	Unknown	NEUTRAL	.04992	Confirmed somatic variant	PMID: N/A	NS	0
SVIL_ENST00000375400	ENST00000375400	J32_T	lung	carcinoma	38952534	c.828-7369G>A	p.?	Unknown	NEUTRAL	.00165	Confirmed somatic variant	PMID: N/A	NS	0
SVIL_ENST00000375400	ENST00000375400	TCGA-VM-A8CF-01	central_nervous_system	glioma	38953496	c.557C>T	p.A186V	Substitution - Missense	NEUTRAL	.13916	Confirmed somatic variant	PMID: N/A	primary	186
SVIL_ENST00000375400	ENST00000375400	2014_Lung_sq_100_T	lung	carcinoma	38951914	c.2239-989G>T	p.?	Unknown	NEUTRAL	.0043	Confirmed somatic variant	PMID: N/A	primary	0
SVIL_ENST00000375400	ENST00000375400	2689678	salivary_gland	carcinoma	38951345	c.828-4740C>T	p.?	Unknown	PATHOGENIC	.97895	Confirmed somatic variant	PMID: 29084941	NS	0
SVIL_ENST00000375400	ENST00000375400	TCGA-34-5236-01	lung	carcinoma	38945956	c.1065-2313G>T	p.?	Unknown	PATHOGENIC	.83223	Variant of unknown origin	PMID: N/A	primary	0

Showing 1 to 20 of 1,229 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**
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:NCBI gene;Acc:695267]
Synonyms:
Other ID(s):	ENSMMUG00000001374
Protein Accession Numbers:	XP_015002190, XP_015002199, XP_015002186, XP_015002195, XP_015002192, XP_015002201, XP_015002189, XP_015002197, XP_015002185, XP_015002194, XP_015002191, XP_015002200, XP_015002188, XP_015002196, XP_015002184, XP_015002193
Statistics:	ClinVar(20) gnomAD(1642) COSMIC(1229)

Classification of Clinicial Significance of ClinVar Data