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

Missense Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	rsNumber	Flags
1-153362584-C-A	ENST00000368733	p.Glu93Ter	Stop Gained	rs758555781	lc_lof
1-153362584-C-A	ENST00000368732	p.Glu93Ter	Stop Gained	rs758555781	lc_lof
1-153362597-T-A	ENST00000368733	p.Glu88Asp	Missense Variant	rs780258234
1-153362597-T-A	ENST00000368732	p.Glu88Asp	Missense Variant	rs780258234
1-153362601-T-C	ENST00000368733	p.His87Arg	Missense Variant	rs529746869
1-153362601-T-C	ENST00000368732	p.His87Arg	Missense Variant	rs529746869
1-153362604-C-A	ENST00000368733	p.Ser86Ile	Missense Variant	rs768804006
1-153362604-C-A	ENST00000368732	p.Ser86Ile	Missense Variant	rs768804006
1-153362604-C-CT	ENST00000368733	p.Ser86LysfsTer3	Frameshift Variant	rs768804006	lc_lof
1-153362604-C-CT	ENST00000368732	p.Ser86LysfsTer3	Frameshift Variant	rs768804006	lc_lof
1-153362605-T-C	ENST00000368733	p.Ser86Gly	Missense Variant	rs776624379
1-153362605-T-C	ENST00000368732	p.Ser86Gly	Missense Variant	rs776624379
1-153362608-T-C	ENST00000368733	p.Lys85Glu	Missense Variant	rs749219175
1-153362608-T-C	ENST00000368732	p.Lys85Glu	Missense Variant	rs749219175
1-153362611-T-G	ENST00000368733	p.Lys84Gln	Missense Variant	rs1441224124
1-153362611-T-G	ENST00000368732	p.Lys84Gln	Missense Variant	rs1441224124
1-153362618-T-C	ENST00000368733	p.Ala81Ala	Synonymous Variant	rs770842441
1-153362618-T-C	ENST00000368732	p.Ala81Ala	Synonymous Variant	rs770842441
1-153362621-C-A	ENST00000368733	p.Val80Val	Synonymous Variant	rs1393990028
1-153362621-C-A	ENST00000368732	p.Val80Val	Synonymous Variant	rs1393990028

Showing 1 to 20 of 152 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
S100A8	P05109	Phosphorylation	11	S11-p	ELEKALNsIIDVyHK	10.83	23141384
S100A8	P05109	Phosphorylation	16	Y16-p	LNsIIDVyHKYSLIK	10.83	4113889
S100A8	P05109	Phosphorylation	3	T3-p	_____MLtELEKALN	10.83	23141392
S100A8	P05109	Phosphorylation	30	Y30-p	KGNFHAVyRDDLKKL	10.83	11043669
S100A8	P05109	Phosphorylation	45	Y45-p	LETECPQyIRKKGAD	10.83	11025028
S100A8	P05109	Acetylation	84	K84-ac	KMGVAAHkKsHEEsH	10.83	3832152
S100A8	P05109	Phosphorylation	86	S86-p	GVAAHkKsHEEsHKE	10.83	23141387
S100A8	P05109	Phosphorylation	90	S90-p	HkKsHEEsHKE____	10.83	23141390

Showing 1 to 8 of 8 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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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
S100A8	ENST00000368733	RK234_C01	liver	carcinoma	35348783	c.168A>T	p.K56N	Substitution - Missense	NEUTRAL	.2679	Confirmed somatic variant	PMID: N/A	primary	56
S100A8	ENST00000368733	GBM20-R3	central_nervous_system	glioma	35348763	c.87C>T	p.V29=	Substitution - coding silent	NEUTRAL	.29207	Confirmed somatic variant	PMID: 28263318	recurrent	29
S100A8	ENST00000368733	2834130	skin	malignant_melanoma	35348706	c.162G>A	p.W54*	Substitution - Nonsense	PATHOGENIC	.75517	Variant of unknown origin	PMID: 28296713	primary	54
S100A8	ENST00000368733	TCGA-D3-A8GC-06	skin	malignant_melanoma	35348937	c.*43T>G	p.?	Unknown	NEUTRAL	.13456	Confirmed somatic variant	PMID: N/A	NS	0
S100A8	ENST00000368733	YUDAB	skin	malignant_melanoma	35348805	c.70G>A	p.G24R	Substitution - Missense	NEUTRAL	.41952	Confirmed somatic variant	PMID: 22842228	NS	24
S100A8	ENST00000368733	TCGA-EE-A2MR-06	skin	malignant_melanoma	35348731	c.27G>A	p.L9=	Substitution - coding silent	NEUTRAL	.01683	Confirmed somatic variant	PMID: N/A	NS	9
S100A8	ENST00000368733	TCGA-W3-AA21-06	skin	malignant_melanoma	35348849	c.49C>T	p.H17Y	Substitution - Missense	PATHOGENIC	.74698	Confirmed somatic variant	PMID: N/A	NS	17
S100A8	ENST00000368733	TCGA-06-5414-01	central_nervous_system	glioma	35349003	c.146A>G	p.K49R	Substitution - Missense	NEUTRAL	.16105	Confirmed somatic variant	PMID: N/A	NS	49
S100A8	ENST00000368733	TCGA-AO-A128-01	breast	carcinoma	35348809	c.*68C>A	p.?	Unknown	PATHOGENIC	.83159	Confirmed somatic variant	PMID: N/A	NS	0
S100A8	ENST00000368733	s_DS_scb_037_M_s_SCB_37M	urinary_tract	carcinoma	35348827	c.220C>T	p.L74=	Substitution - coding silent	NEUTRAL	.0403	Confirmed somatic variant	PMID: 29180607	metastasis	74
S100A8	ENST00000368733	TCGA-ED-A66Y-01	liver	carcinoma	35348747	c.*42C>T	p.?	Unknown	NEUTRAL	.08872	Confirmed somatic variant	PMID: N/A	NS	0
S100A8	ENST00000368733	TCGA-55-8085-01	lung	carcinoma	35349022	c.165C>T	p.F55=	Substitution - coding silent	PATHOGENIC	.76375	Confirmed somatic variant	PMID: N/A	NS	55
S100A8	ENST00000368733	T3235	large_intestine	carcinoma	35349154	c.*56A>C	p.?	Unknown	PATHOGENIC	.82792	Confirmed somatic variant	PMID: 27149842	NS	0
S100A8	ENST00000368733	PCSI_0228_Pa_P_526	pancreas	carcinoma	35348921	c.-22-225C>T	p.?	Unknown	NEUTRAL	.00384	Confirmed somatic variant	PMID: N/A	primary	0
S100A8	ENST00000368733	TCGA-FS-A1ZZ-06	skin	malignant_melanoma	35348691	c.178A>C	p.I60L	Substitution - Missense	NEUTRAL	.09137	Confirmed somatic variant	PMID: N/A	NS	60
S100A8	ENST00000368733	TCGA-FS-A1ZZ-06	skin	malignant_melanoma	35348695	c.177T>G	p.D59E	Substitution - Missense	NEUTRAL	.11766	Confirmed somatic variant	PMID: N/A	NS	59
S100A8	ENST00000368733	LUAD_E00522	lung	carcinoma	35348652	c.42C>T	p.D14=	Substitution - coding silent	NEUTRAL	.0014	Variant of unknown origin	PMID: 22980975	primary	14
S100A8	ENST00000368733	2757184	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	35349157	c.85G>A	p.V29I	Substitution - Missense	NEUTRAL	.01873	Confirmed somatic variant	PMID: 26551670	secondary	29
S100A8	ENST00000368733	TCGA-CK-4951-01	large_intestine	carcinoma	35348674	c.-22G>A	p.?	Unknown		.59916	Confirmed somatic variant	PMID: N/A	NS	0
S100A8	ENST00000368733	GBM20-R1	central_nervous_system	glioma	35348763	c.87C>T	p.V29=	Substitution - coding silent	NEUTRAL	.29207	Confirmed somatic variant	PMID: 28263318	recurrent	29

Showing 1 to 20 of 80 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
PF01023	S_100	S-100/ICaBP type calcium binding domain	5-49	CL0220	EF_hand	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Dermatitis, Atopic	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.481	0.828
Contact Dermatitis	Skin and Connective Tissue Diseases ;	0.481	0.828
Keloid	Skin and Connective Tissue Diseases ; Pathological Conditions, Signs and Symptoms ;	0.481	0.828
Leukemia, Myelocytic, Acute	Neoplasms ;	0.481	0.828
Animal Mammary Neoplasms	Neoplasms ; Animal Diseases ;	0.481	0.828
Acute Myeloid Leukemia, M1	Neoplasms ;	0.481	0.828
Eczema, Infantile	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.481	0.828
Contact hypersensitivity	Skin and Connective Tissue Diseases ;	0.481	0.828
Mammary Carcinoma, Animal	Neoplasms ; Animal Diseases ;	0.481	0.828
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.481	0.828
NO RESULT FOUND

Description:	S100 calcium binding protein A8 [Source:HGNC Symbol;Acc:HGNC:10498]
Synonyms:	L1Ag, CFAG, MRP8, 60B8AG, CP-10, P8, CAGA, MIF, CGLA, NIF, A387
Other ID(s):	ENSG00000143546, HGNC:10498
Protein Accession Numbers:	ENST00000368733, NP_002955, NP_001306126, ENST00000368732, NP_001306130, NP_001306125, NP_001306127
Statistics:	gnomAD(152) COSMIC(80) PTM(8)

Classification of Clinicial Significance of ClinVar Data