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.
769694	699331	rs7755303	single nucleotide variant	NM_001143676.3(SGK1):c.1530C>T (p.Ala510=)	p.Ala443=	Benign	not provided	criteria provided, single submitter	RCV000948747
800349	788690	rs1171390403	single nucleotide variant	NM_001143676.3(SGK1):c.1379A>G (p.Asn460Ser)	p.Asn393Ser	Likely pathogenic	Multiple myeloma	no assertion criteria provided	RCV000984130

Showing 1 to 2 of 2 entries

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gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
6-134491409-G-A	ENST00000528577	p.Leu459Leu	Synonymous Variant	0	0	0	rs1339008383
6-134491410-A-G	ENST00000528577	p.Leu459Pro	Missense Variant	0	0	0	rs1229064897
6-134491411-G-A	ENST00000528577	p.Leu459Phe	Missense Variant	0	0	0	rs764031935
6-134491416-G-C	ENST00000528577	p.Ser457Cys	Missense Variant	0	0	0	rs150018874
6-134491418-G-A	ENST00000528577	p.Asp456Asp	Synonymous Variant	0	0	0	rs957848462
6-134491421-C-T	ENST00000528577	p.Thr455Thr	Synonymous Variant	0	0	0	rs372966158
6-134491422-G-A	ENST00000528577	p.Thr455Met	Missense Variant	2	31396	0.000064	rs144542860
6-134491428-G-A	ENST00000528577	p.Pro453Leu	Missense Variant	0	0	0	rs1195237711
6-134491430-C-T	ENST00000528577	p.Ala452Ala	Synonymous Variant	0	0	0	rs778728121
6-134491431-G-A	ENST00000528577	p.Ala452Val	Missense Variant	0	0	0	rs750204554
6-134491452-G-A	ENST00000528577	p.Ala445Val	Missense Variant	0	0	0
6-134491453-C-G	ENST00000528577	p.Ala445Pro	Missense Variant	1	31398	0.000032	rs764021613
6-134491456-C-T	ENST00000528577	p.Glu444Lys	Missense Variant	0	0	0	rs779967650
6-134491457-G-A	ENST00000528577	p.Ala443Ala	Synonymous Variant	122	31396	0.003886	rs7755303
6-134491466-C-G	ENST00000528577	p.Lys440Asn	Missense Variant	0	0	0	rs142645675
6-134491471-C-T	ENST00000528577	p.Val439Ile	Missense Variant	0	0	0	rs780541198
6-134491472-G-A	ENST00000528577	p.Ser438Ser	Synonymous Variant	0	0	0	rs373203227
6-134491475-G-C	ENST00000528577	p.Ala437Ala	Synonymous Variant	0	0	0	rs1316353688
6-134491481-G-A	ENST00000528577	p.Val435Val	Synonymous Variant	2	31396	0.000064	rs146520415
6-134491483-C-G	ENST00000528577	p.Val435Leu	Missense Variant	0	0	0	rs774925063

Showing 1 to 20 of 375 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
SGK1	O00141	Ubiquitination	102	K102-ub	PSDFHFLkVIGKGSF	48.94	964544326
SGK1	O00141	Ubiquitination	111	K111-ub	IGKGSFGkVLLARHk	48.94	573756590
SGK1	O00141	Ubiquitination	118	K118-ub	kVLLARHkAEEVFyA	48.94	964544328
SGK1	O00141	Phosphorylation	124	Y124-p	HkAEEVFyAVkVLQK	48.94	3706651
SGK1	O00141	Ubiquitination	127	K127-ub	EEVFyAVkVLQKKAI	48.94	22251897
SGK1	O00141	Ubiquitination	152	K152-ub	SERNVLLkNVKHPFL	48.94	964544330
SGK1	O00141	Phosphorylation	256	T256-p	EHNSTTStFCGTPEY	48.94	448431
SGK1	O00141	Ubiquitination	271	K271-ub	LAPEVLHkQPYDRTV	48.94	964544332
SGK1	O00141	Ubiquitination	317	K317-ub	LNKPLQLkPNITNSA	48.94	964544334
SGK1	O00141	Ubiquitination	343	K343-ub	RTKRLGAkDDFMEIK	48.94	964544336
SGK1	O00141	Ubiquitination	367	K367-ub	WDDLINKkItPPFNP	48.94	964544338
SGK1	O00141	Phosphorylation	369	T369-p	DLINKkItPPFNPNV	48.94	448432
SGK1	O00141	Phosphorylation	377	S377-p	PPFNPNVsGPNDLRH	48.94	11507607
SGK1	O00141	Phosphorylation	397	S397-p	TEEPVPNsIGksPDS	48.94	4271680
SGK1	O00141	Ubiquitination	400	K400-ub	PVPNsIGksPDSVLV	48.94	964544340
SGK1	O00141	Phosphorylation	401	S401-p	VPNsIGksPDSVLVT	48.94	4271683
SGK1	O00141	Acetylation	41	K41-ac	GLNDFIQkIANNSYA	48.94	15296181
SGK1	O00141	Phosphorylation	422	S422-p	AEAFLGFsYAPPTDS	48.94	448429
SGK1	O00141	Ubiquitination	50	K50-ub	ANNSYACkHPEVQSI	48.94	964544342
SGK1	O00141	Phosphorylation	74	S74-p	ELMNANPsPPPsPSQ	48.94	4271980

Showing 1 to 20 of 22 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Complex - Frameshift

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
SGK1_ENST00000528577	ENST00000528577	STC252	stomach	carcinoma	78929796	c.184G>T	p.G62C	Substitution - Missense	PATHOGENIC	.97847	Confirmed somatic variant	PMID: 25042771	primary	62
SGK1_ENST00000528577	ENST00000528577	TCGA-91-6848-01	lung	carcinoma	78927941	c.1223A>T	p.N408I	Substitution - Missense	PATHOGENIC	.82221	Variant of unknown origin	PMID: N/A	primary	408
SGK1_ENST00000528577	ENST00000528577	27_tFL	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78929091	c.217A>G	p.N73D	Substitution - Missense	PATHOGENIC	.97036	Variant of unknown origin	PMID: 24388756	NS	73
SGK1_ENST00000528577	ENST00000528577	P734	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78935053	c.212C>T	p.A71V	Substitution - Missense	PATHOGENIC	.94764	Variant of unknown origin	PMID: 32187361	primary	71
SGK1_ENST00000528577	ENST00000528577	2834130	skin	malignant_melanoma	78924409	c.635T>A	p.L212*	Substitution - Nonsense	PATHOGENIC	.98959	Variant of unknown origin	PMID: 28296713	primary	212
SGK1_ENST00000528577	ENST00000528577	QC2-15-T2	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78924882	c.236+1G>A	p.?	Unknown	PATHOGENIC	.9739	Confirmed somatic variant	PMID: 26647218	recurrent	0
SGK1_ENST00000528577	ENST00000528577	T2939	large_intestine	carcinoma	78924387	c.161-305T>C	p.?	Unknown	PATHOGENIC	.7885	Confirmed somatic variant	PMID: 27149842	NS	0
SGK1_ENST00000528577	ENST00000528577	ccRCC-20	kidney	carcinoma	78929715	c.721C>G	p.L241V	Substitution - Missense	PATHOGENIC	.97522	Confirmed somatic variant	PMID: 23797736	NS	241
SGK1_ENST00000528577	ENST00000528577	TCGA-DD-AACT-01	liver	carcinoma	78928199	c.1068G>T	p.L356=	Substitution - coding silent	PATHOGENIC	.9547	Confirmed somatic variant	PMID: N/A	primary	356
SGK1_ENST00000528577	ENST00000528577	TCGA-CV-7104-01	upper_aerodigestive_tract	carcinoma	78929165	c.161-147C>T	p.?	Unknown	PATHOGENIC	.9229	Confirmed somatic variant	PMID: N/A	NS	0
SGK1_ENST00000528577	ENST00000528577	P460	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78930063	c.171G>C	p.K57N	Substitution - Missense	PATHOGENIC	.87211	Variant of unknown origin	PMID: 32187361	primary	57
SGK1_ENST00000528577	ENST00000528577	tumor_4177376	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78924934	c.161-1G>A	p.?	Unknown	PATHOGENIC	.98196	Confirmed somatic variant	PMID: N/A	NS	0
SGK1_ENST00000528577	ENST00000528577	P94	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78928076	c.218A>G	p.N73S	Substitution - Missense	PATHOGENIC	.94528	Variant of unknown origin	PMID: 32187361	primary	73
SGK1_ENST00000528577	ENST00000528577	P94	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78927751	c.169A>T	p.K57*	Substitution - Nonsense	PATHOGENIC	.98321	Variant of unknown origin	PMID: 32187361	primary	57
SGK1_ENST00000528577	ENST00000528577	P820	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78933847	c.514A>T	p.M172L	Substitution - Missense	PATHOGENIC	.96854	Variant of unknown origin	PMID: 32187361	primary	172
SGK1_ENST00000528577	ENST00000528577	P820	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78933866	c.161-6C>A	p.?	Unknown		.63007	Variant of unknown origin	PMID: 32187361	primary	0
SGK1_ENST00000528577	ENST00000528577	TCGA-05-4397-01	lung	carcinoma	78925554	c.161-277G>C	p.?	Unknown	NEUTRAL	.23403	Confirmed somatic variant	PMID: N/A	primary	0
SGK1_ENST00000528577	ENST00000528577	TCGA-BR-A4QI-01	stomach	carcinoma	78925702	c.396C>T	p.I132=	Substitution - coding silent	NEUTRAL	.48686	Confirmed somatic variant	PMID: N/A	NS	132
SGK1_ENST00000528577	ENST00000528577	Pat_45_B	NS	malignant_melanoma	78934974	c.1196C>T	p.P399L	Substitution - Missense	PATHOGENIC	.99258	Confirmed somatic variant	PMID: 24265153	NS	399
SGK1_ENST00000528577	ENST00000528577	tumor_4177376	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78925261	c.236+186C>G	p.?	Unknown	NEUTRAL	.25924	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 538 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
PF00433	Pkinase_C	Protein kinase C terminal domain	376-423			Homo sapiens
PF00069	Pkinase	Protein kinase domain	98-355	CL0016	PKinase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Carcinoma	Neoplasms ;	0.53	0.621
Diabetic Neuropathies	Nervous System Diseases ; Endocrine System Diseases ;	0.53	0.621
Leukemia, Myelocytic, Acute	Neoplasms ;	0.53	0.621
Animal Mammary Neoplasms	Neoplasms ; Animal Diseases ;	0.53	0.621
Mammary Neoplasms, Experimental	Neoplasms ;	0.53	0.621
Acute Myeloid Leukemia, M1	Neoplasms ;	0.53	0.621
Unipolar Depression	Mental Disorders ;	0.53	0.621
Uremia	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.53	0.621
Diffuse Large B-Cell Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.53	0.621
Anaplastic carcinoma	Neoplasms ;	0.53	0.621
Carcinoma, Spindle-Cell	Neoplasms ;	0.53	0.621
Undifferentiated carcinoma	Neoplasms ;	0.53	0.621
Carcinomatosis	Neoplasms ;	0.53	0.621
Symmetric Diabetic Proximal Motor Neuropathy	Nervous System Diseases ; Endocrine System Diseases ;	0.53	0.621
Asymmetric Diabetic Proximal Motor Neuropathy	Nervous System Diseases ; Endocrine System Diseases ;	0.53	0.621
Diabetic Mononeuropathy	Nervous System Diseases ; Endocrine System Diseases ;	0.53	0.621
Diabetic Polyneuropathies	Nervous System Diseases ; Endocrine System Diseases ;	0.53	0.621
Diabetic Amyotrophy	Nervous System Diseases ; Endocrine System Diseases ;	0.53	0.621
Diabetic Autonomic Neuropathy	Nervous System Diseases ; Endocrine System Diseases ;	0.53	0.621
Diabetic Asymmetric Polyneuropathy	Nervous System Diseases ; Endocrine System Diseases ;	0.53	0.621
Diabetic Neuralgia	Nervous System Diseases ; Endocrine System Diseases ;	0.53	0.621
Mammary Carcinoma, Animal	Neoplasms ; Animal Diseases ;	0.53	0.621
Major Depressive Disorder	Mental Disorders ;	0.53	0.621
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.53	0.621
NO RESULT FOUND

Description:	serum/glucocorticoid regulated kinase 1 [Source:MGI Symbol;Acc:MGI:1340062]
Synonyms:	Sgk
Other ID(s):	MGI:1340062, ENSMUSG00000019970
Protein Accession Numbers:	NP_001155321, NP_001155317, NP_035491, NP_001155320, NP_001155322, NP_001155319
Statistics:	ClinVar(2) gnomAD(375) COSMIC(538) PTM(22)

Classification of Clinicial Significance of ClinVar Data