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

Missense Variant

Splice Region Variant

Stop Gained

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
5-131409523-C-T	ENST00000296871	p.Leu3Leu	Synonymous Variant	0	0	0	rs1410341189
5-131409526-C-G	ENST00000296871	p.Gln4Glu	Missense Variant	0	0	0	rs1169407206
5-131409529-A-G	ENST00000296871	p.Ser5Gly	Missense Variant	0	0	0	rs764528813
5-131409531-C-A	ENST00000296871	p.Ser5Arg	Missense Variant	1	31400	0.000032	rs1449756934
5-131409546-C-A	ENST00000296871	p.Gly10Gly	Synonymous Variant	0	0	0	rs1336861672
5-131409549-T-C	ENST00000296871	p.Thr11Thr	Synonymous Variant	0	0	0	rs201520008
5-131409552-G-A	ENST00000296871	p.Val12Val	Synonymous Variant	0	0	0	rs200740065
5-131409564-C-T	ENST00000296871	p.Ile16Ile	Synonymous Variant	0	0	0	rs750583291
5-131409567-T-G	ENST00000296871	p.Ser17Ser	Synonymous Variant	4	31390	0.000127	rs1343412431
5-131409569-C-T	ENST00000296871	p.Ala18Val	Missense Variant	0	0	0	rs761384799
5-131409572-C-T	ENST00000296871	p.Pro19Leu	Missense Variant	0	0	0	rs1271304763
5-131409573-C-T	ENST00000296871	p.Pro19Pro	Synonymous Variant	2	31382	0.000064	rs766529017
5-131409574-G-A	ENST00000296871	p.Ala20Thr	Missense Variant	1	31378	0.000032	rs200208265
5-131409576-C-T	ENST00000296871	p.Ala20Ala	Synonymous Variant	0	0	0	rs755097799
5-131409577-C-G	ENST00000296871	p.Arg21Gly	Missense Variant	0	0	0	rs201688947
5-131409577-C-T	ENST00000296871	p.Arg21Cys	Missense Variant	0	0	0	rs201688947
5-131409578-G-A	ENST00000296871	p.Arg21His	Missense Variant	0	0	0	rs758409716
5-131409580-T-G	ENST00000296871	p.Ser22Ala	Missense Variant	1	31384	0.000032	rs1484175837
5-131409581-C-T	ENST00000296871	p.Ser22Leu	Missense Variant	0	0	0	rs777654384
5-131409582-G-A	ENST00000296871	p.Ser22Ser	Synonymous Variant	370	31362	0.011798	rs2069621

Showing 1 to 20 of 124 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
CSF2	P04141	Phosphorylation	119	T119-p	SCATQIItFESFKEN	16.29	11096975
CSF2	P04141	Phosphorylation	86	S86-p	YKQGLRGsLTKLKGP	16.29	23110254
CSF2	P04141	Phosphorylation	95	T95-p	TKLKGPLtMMASHYK	16.29	11096970

Showing 1 to 3 of 3 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Substitution - Coding Silent

Substitution - Missense

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
CSF2	ENST00000296871	W10T	thyroid	carcinoma	24214362	c.205C>A	p.P69T	Substitution - Missense		.60275	Confirmed somatic variant	PMID: N/A	primary	69
CSF2	ENST00000296871	RD	soft_tissue	rhabdomyosarcoma	24213970	c.350T>C	p.I117T	Substitution - Missense	NEUTRAL	.03061	Reported in another cancer sample as somatic	PMID: 24793135	NS	117
CSF2	ENST00000296871	EXTERN_MELA_20140526_051	skin	malignant_melanoma	24214325	c.335C>T	p.S112F	Substitution - Missense		.50619	Confirmed somatic variant	PMID: 28467829	primary	112
CSF2	ENST00000296871	TCGA-D3-A8GC-06	skin	malignant_melanoma	24214391	c.*109G>A	p.?	Unknown	NEUTRAL	.00554	Confirmed somatic variant	PMID: N/A	NS	0
CSF2	ENST00000296871	pfg053T	stomach	carcinoma	24214222	c.319C>A	p.P107T	Substitution - Missense	NEUTRAL	.04042	Confirmed somatic variant	PMID: 24816253	NS	107
CSF2	ENST00000296871	PCSI_0099_Pa_P_526	pancreas	carcinoma	24214569	c.*224A>T	p.?	Unknown	NEUTRAL	.01047	Confirmed somatic variant	PMID: N/A	primary	0
CSF2	ENST00000296871	TCGA-EM-A1YB-01	thyroid	carcinoma	24214131	c.*65C>T	p.?	Unknown	NEUTRAL	.03327	Confirmed somatic variant	PMID: N/A	NS	0
CSF2	ENST00000296871	MEN0097-P2	meninges	meningioma	24214094	c.375G>C	p.E125D	Substitution - Missense	NEUTRAL	.02936	Confirmed somatic variant	PMID: 28713588	NS	125
CSF2	ENST00000296871	SJRHB013	soft_tissue	rhabdomyosarcoma	24214171	c.121C>G	p.R41G	Substitution - Missense	NEUTRAL	.01601	Reported in another cancer sample as somatic	PMID: N/A	NS	41
CSF2	ENST00000296871	195	stomach	carcinoma	24214517	c.*33G>A	p.?	Unknown	NEUTRAL	.01778	Confirmed somatic variant	PMID: N/A	primary	0
CSF2	ENST00000296871	TCGA-CR-7364-01	upper_aerodigestive_tract	carcinoma	24214126	c.117C>A	p.A39=	Substitution - coding silent	NEUTRAL	.01475	Confirmed somatic variant	PMID: N/A	NS	39
CSF2	ENST00000296871	2492703	skin	malignant_melanoma	24214021	c.404C>T	p.P135L	Substitution - Missense	NEUTRAL	.17133	Confirmed somatic variant	PMID: 26286987	metastasis	135
CSF2	ENST00000296871	RH30SJ	soft_tissue	rhabdomyosarcoma	24213970	c.350T>C	p.I117T	Substitution - Missense	NEUTRAL	.03061	Reported in another cancer sample as somatic	PMID: 24793135	NS	117
CSF2	ENST00000296871	TCGA-85-7950-01	lung	carcinoma	24214139	c.375G>A	p.E125=	Substitution - coding silent	NEUTRAL	.02562	Confirmed somatic variant	PMID: N/A	NS	125
CSF2	ENST00000296871	TCGA-D7-A4YY-01	stomach	carcinoma	24214602	c.-23dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	NS	0
CSF2	ENST00000296871	TCGA-77-8009-01	lung	carcinoma	24214176	c.358T>C	p.F120L	Substitution - Missense	NEUTRAL	.11848	Confirmed somatic variant	PMID: N/A	NS	120
CSF2	ENST00000296871	TCGA-D3-A2JD-06	skin	malignant_melanoma	24214454	c.61C>A	p.R21S	Substitution - Missense	NEUTRAL	.00874	Confirmed somatic variant	PMID: N/A	NS	21
CSF2	ENST00000296871	PD6783a	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	24213995	c.388T>C	p.F130L	Substitution - Missense	PATHOGENIC	.80867	Confirmed somatic variant	PMID: 24030381	secondary	130
CSF2	ENST00000296871	T101	large_intestine	carcinoma	24214509	c.332C>T	p.T111I	Substitution - Missense		.52211	Confirmed somatic variant	PMID: 27149842	NS	111
CSF2	ENST00000296871	TCGA-S3-AA15-01	breast	carcinoma	24214365	c.*260C>G	p.?	Unknown	NEUTRAL	.03784	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 41 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
PF01109	GM_CSF	Granulocyte-macrophage colony-stimulating factor	18-139	CL0053	4H_Cytokine	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Agranulocytosis	Hemic and Lymphatic Diseases ;	0.356	0.966
Amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.356	0.966
Anemia	Hemic and Lymphatic Diseases ;	0.356	0.966
Aplastic Anemia	Hemic and Lymphatic Diseases ;	0.356	0.966
Rheumatoid Arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.356	0.966
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.356	0.966
Carcinoma	Neoplasms ;	0.356	0.966
Colorectal Carcinoma	Neoplasms ; Digestive System Diseases ;	0.356	0.966
Colorectal Neoplasms	Neoplasms ; Digestive System Diseases ;	0.356	0.966
Diastematomyelia	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.356	0.966
Drug toxicity	Chemically-Induced Disorders ;	0.356	0.966
Eyelid Diseases	Eye Diseases ;	0.356	0.966
Gastrointestinal Hemorrhage	Digestive System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Heart failure	Cardiovascular Diseases ;	0.356	0.966
Congestive heart failure	Cardiovascular Diseases ;	0.356	0.966
Hematochezia	Digestive System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Inflammation	Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Left-Sided Heart Failure	Cardiovascular Diseases ;	0.356	0.966
Leishmaniasis, Visceral	Parasitic Diseases ;	0.356	0.966
Leukemia, Myelocytic, Acute	Neoplasms ;	0.356	0.966
Liver neoplasms	Neoplasms ; Digestive System Diseases ;	0.356	0.966
Reticulosarcoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Lymphoma, Mixed-Cell	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Lymphoma, Non-Hodgkin	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Lymphoma, Undifferentiated	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
melanoma	Neoplasms ;	0.356	0.966
Multiple Myeloma	Neoplasms ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Acute Myeloid Leukemia, M1	Neoplasms ;	0.356	0.966
Neural Tube Defects	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.356	0.966
Neurenteric Cyst	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.356	0.966
Neutropenia	Hemic and Lymphatic Diseases ;	0.356	0.966
Pain	Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Pustulosis of Palms and Soles	Skin and Connective Tissue Diseases ;	0.356	0.966
Pneumonia	Respiratory Tract Diseases ;	0.356	0.966
Lobar Pneumonia	Respiratory Tract Diseases ;	0.356	0.966
Psoriasis	Skin and Connective Tissue Diseases ;	0.356	0.966
Pulmonary Fibrosis	Respiratory Tract Diseases ;	0.356	0.966
Schizophrenia	Mental Disorders ;	0.356	0.966
Thrombocytopenia	Hemic and Lymphatic Diseases ;	0.356	0.966
Thyroid Neoplasm	Neoplasms ; Endocrine System Diseases ;	0.356	0.966
Adverse reaction to drug	Chemically-Induced Disorders ;	0.356	0.966
Venous Thrombosis	Cardiovascular Diseases ;	0.356	0.966
High Grade Lymphoma (neoplasm)	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Lymphoma, Intermediate-Grade	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Low Grade Lymphoma (neoplasm)	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Diffuse Mixed-Cell Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Lymphoma, Small Noncleaved-Cell	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Tethered Cord Syndrome	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.356	0.966
Lymphoma, AIDS-Related	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Hamman-Rich syndrome	Respiratory Tract Diseases ;	0.356	0.966
Deep Vein Thrombosis	Cardiovascular Diseases ;	0.356	0.966
Thyroid Gland Follicular Adenoma	Neoplasms ; Endocrine System Diseases ;	0.356	0.966
Muscle Weakness	Musculoskeletal Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Iniencephaly	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.356	0.966
Craniorachischisis	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.356	0.966
Hypoplastic anemia	Hemic and Lymphatic Diseases ;	0.356	0.966
Anaplastic carcinoma	Neoplasms ;	0.356	0.966
Carcinoma, Spindle-Cell	Neoplasms ;	0.356	0.966
Undifferentiated carcinoma	Neoplasms ;	0.356	0.966
Carcinomatosis	Neoplasms ;	0.356	0.966
Sarcoma, Epithelioid	Neoplasms ;	0.356	0.966
Sarcoma, Spindle Cell	Neoplasms ;	0.356	0.966
Hysterical amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.356	0.966
Temporary Amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.356	0.966
Pain, Burning	Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Ache	Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Radiating pain	Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Heart Failure, Right-Sided	Cardiovascular Diseases ;	0.356	0.966
Dissociative Amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.356	0.966
Residual Cancer	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Neoplasm, Residual	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Global Amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.356	0.966
Exencephaly	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.356	0.966
Inflammatory disease of mucous membrane	Digestive System Diseases ; Stomatognathic Diseases ;	0.356	0.966
Spinal Cord Myelodysplasia	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.356	0.966
Malignant neoplasm of liver	Neoplasms ; Digestive System Diseases ;	0.356	0.966
Juvenile Myelomonocytic Leukemia	Neoplasms ; Hemic and Lymphatic Diseases ;	0.356	0.966
Non-alcoholic Fatty Liver Disease	Digestive System Diseases ;	0.356	0.966
Pain, Splitting	Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Pain, Crushing	Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Residual Tumor	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Thyroid carcinoma	Neoplasms ; Endocrine System Diseases ;	0.356	0.966
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.356	0.966
Acrania	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.356	0.966
Tactile Amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.356	0.966
Amnestic State	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.356	0.966
Pain, Migratory	Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Suffering, Physical	Pathological Conditions, Signs and Symptoms ;	0.356	0.966
Experimental Lung Inflammation	Respiratory Tract Diseases ;	0.356	0.966
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.356	0.966
Sarcoma	Neoplasms ;	0.356	0.966
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.356	0.966
Colorectal Cancer	Neoplasms ; Digestive System Diseases ;	0.356	0.966
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.356	0.966
Myocardial Failure	Cardiovascular Diseases ;	0.356	0.966
Heart Decompensation	Cardiovascular Diseases ;	0.356	0.966
Bone Marrow failure syndromes	Hemic and Lymphatic Diseases ;	0.356	0.966
Nonalcoholic Steatohepatitis	Digestive System Diseases ;	0.356	0.966
Lymphoma, Diffuse	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.356	0.966
Pneumonitis	Respiratory Tract Diseases ;	0.356	0.966
Bone marrow failure syndrome 1	Hemic and Lymphatic Diseases ;	0.356	0.966
Bone marrow failure syndrome 2	Hemic and Lymphatic Diseases ;	0.356	0.966
Familial M�ni�re disease	N/A	0.356	0.966
NO RESULT FOUND

Description:	colony stimulating factor 2 [Source:HGNC Symbol;Acc:HGNC:2434]
Synonyms:	GMCSF
Other ID(s):	HGNC:2434, ENSG00000164400
Protein Accession Numbers:	ENST00000296871, NP_000749
Statistics:	ClinVar(5) gnomAD(124) COSMIC(41) PTM(3)

Classification of Clinicial Significance of ClinVar Data