CIViC Evidence Items

4766 evidence items indexed

Evidence Level Distribution

CIViC evidence levels reflect study design quality, from A (strongest) to E (weakest).

AValidated — meta-analysis, systematic review, or major guideline

BClinical — prospective trial or retrospective cohort study

CCase study — single case report or small case series

DPreclinical — in vitro or animal model data

EInferential — computational prediction or biological rationale

Gene × Evidence Type

Count of CIViC evidence items per gene and evidence type category. Hover a column header for the type definition.

	Predictive	Diagnostic	Prognostic	Functional	Predispos.	Oncogenic
BCR::ABL1	323	11
BRAF	186	4	26	2		1
EGFR	248		12	3		2
EML4::ALK	64
ERBB2	142		2
FLT3	55	2	21
KIT	102	3	7
KRAS	159	4	24			4
PIK3CA	156		16	4
PTEN	53	1	3	1	2	1
TP53	52		40	100	2
VHL	5	2	3		635	15

Predictive:Links a variant to treatment response or resistance

Diagnostic:Supports or refutes a specific disease diagnosis

Prognostic:Informs disease progression or clinical outcome

Functional:Characterises the biological effect of a variant

Predisposing:Germline variant associated with cancer predisposition

Oncogenic:Characterises the variant's role in oncogenesis

Level	Gene	Variant	Type	Direction	Significance	Disease	Drugs	Source
B	KIAA1549::BRAF	Fusion	Prognostic	Supports	Better Outcome	Childhood Low-grade Glioma		Yang et al., 2018
B	MYB	AMPLIFICATION	Prognostic	Supports	Better Outcome	Childhood Low-grade Glioma		Yang et al., 2018
B	KIAA1549::BRAF	Fusion	Prognostic	Supports	Better Outcome	Childhood Low-grade Glioma		Hawkins et al., 2011
B	FGFR1	Internal Duplication	Diagnostic	Supports	Positive	Childhood Low-grade Glioma		Zhang et al., 2013
B	IGH::CRLF2	Fusion	Prognostic	Supports	Poor Outcome	B-cell Adult Acute Lymphocytic Leukemia		Yoda et al., 2010
A	FGFR2	Mutation OR FGFR2::v Fusion OR FGFR2::? Fusion	Predictive	Supports	Sensitivity/Response	Transitional Cell Carcinoma	Erdafitinib	Arlene O. Siefker-Radtke, 2018, ASCO Annual Meeting, Abstract 4503
B	FLT3	Mutation	Predictive	Supports	Sensitivity/Response	Acute Myeloid Leukemia	Gilteritinib	Perl et al., 2017
B	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Lorlatinib	Solomon et al., 2018
B	CDKN2A	Mutation	Predictive	Does Not Support	Sensitivity/Response	Pancreatic Cancer	Palbociclib	Tareq Al Baghdadi, 2018, ASCO Annual Meeting, Abstract 2532
B	CDKN2A	Mutation	Predictive	Does Not Support	Sensitivity/Response	Cholangiocarcinoma	Palbociclib	Tareq Al Baghdadi, 2018, ASCO Annual Meeting, Abstract 2532
B	KIAA1549::BRAF	Fusion	Diagnostic	Supports	Positive	Pilocytic Astrocytoma		Jones et al., 2008
A	EGFR	L858R OR EGFR Exon 19 Deletion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Dacomitinib	Wu et al., 2017
B	IKZF1	Deletion	Predictive	Supports	Sensitivity/Response	B-lymphoblastic Leukemia/lymphoma	Cytarabine,Daunorubicin,Imatinib,Methotrexate,Fludarabine	Yeoh et al., 2018
D	FLT3	ITD	Predictive	Supports	Sensitivity/Response	Leukemia	Sunitinib,Sorafenib	Gozgit et al., 2011
B	IKZF1	Loss-of-function	Prognostic	Supports	Poor Outcome	Childhood B-cell Acute Lymphoblastic Leukemia		Mullighan et al., 2009
D	KIT	V560_L576del	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Imatinib,Ponatinib	Garner et al., 2014
D	KIT	D816E	Predictive	Does Not Support	Resistance	Gastrointestinal Stromal Tumor	Ponatinib	Garner et al., 2014
D	KIT	A829P	Predictive	Does Not Support	Resistance	Gastrointestinal Stromal Tumor	Ponatinib	Garner et al., 2014
D	KIT	N822K	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Sunitinib,Imatinib	Garner et al., 2014
D	KIT	A829P AND ( KIT W557_K558del OR KIT V560_Y578del )	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib,Sunitinib	Garner et al., 2014
C	ALK	Alternative Transcript (ATI)	Predictive	Does Not Support	Sensitivity/Response	Mucosal Melanoma	Entrectinib	Couts et al., 2018
A	FGFR3	Mutation	Predictive	Supports	Sensitivity/Response	Transitional Cell Carcinoma	Erdafitinib	Loriot et al., 2019
A	PIK3CA	E545K OR PIK3CA E545A OR PIK3CA E545G OR PIK3CA E545D	Predictive	Supports	Sensitivity/Response	Breast Cancer	Alpelisib,Fulvestrant	André et al., 2019
D	TP53	R248Q	Functional	Supports	Dominant Negative			Boettcher et al., 2019
D	TP53	Y220C	Functional	Does Not Support	Neomorphic			Boettcher et al., 2019
D	TP53	M237I	Functional	Does Not Support	Neomorphic			Boettcher et al., 2019
D	TP53	R248Q	Functional	Does Not Support	Neomorphic			Boettcher et al., 2019
D	TP53	R273H	Functional	Does Not Support	Neomorphic			Boettcher et al., 2019
B	IKZF1	Deletion	Prognostic	Supports	Poor Outcome	B-lymphoblastic Leukemia/lymphoma		Zhang et al., 2017
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Langerhans Cell Sarcoma	Vemurafenib	Donadieu et al., 2019
B	EGFR	Exon 19 Deletion	Predictive	Supports	Resistance	Lung Non-small Cell Carcinoma	Anti-PD1 Monoclonal Antibody	Hastings et al., 2019
B	EGFR	Exon 19 Deletion	Predictive	Supports	Resistance	Lung Non-small Cell Carcinoma	Anti-PD-L1 Monoclonal Antibody	Hastings et al., 2019
B	H3-3A	K28M	Predictive	Supports	Sensitivity/Response	Glioma	Dordaviprone	Isabel Arrillaga, 2019, ASCO Annual Meeting, Abstract 3005
B	FGF19	Overexpression	Predictive	Supports	Sensitivity/Response	Hepatocellular Carcinoma	Fisogatinib	Kim et al., 2019
B	VHL	Y98H (c.292T>C)	Predisposing	N/A		Von Hippel-Lindau Disease		Brauch et al., 1995
C	BRAF	V600 AND BRAF Amplification	Predictive	Supports	Resistance	Melanoma	Dabrafenib,Trametinib	Long et al., 2014
C	BCR::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Reshmi et al., 2017
B	RET	M918T	Predictive	Supports	Sensitivity/Response	Medullary Thyroid Carcinoma	Cabozantinib	Sherman et al., 2016
B	IDH1	Mutation	Prognostic	Supports	Better Outcome	Chondrosarcoma		Zhu et al., 2020
B	IDH2	Mutation	Prognostic	Supports	Better Outcome	Chondrosarcoma		Zhu et al., 2020
B	CTNNB1	Exon 3 Mutation	Prognostic	Does Not Support	Poor Outcome	Desmoid Tumor		Mullen et al., 2013
C	DPYD	EXON 11-19 DELETION	Predictive	Supports	Sensitivity/Response	Head And Neck Squamous Cell Carcinoma	Fluorouracil,Leucovorin	Majounie et al., 2020
D	NT5C2	R238W	Predictive	Supports	Resistance	Childhood Acute Lymphocytic Leukemia	Thioguanine,Mercaptopurine	Meyer et al., 2013
D	NT5C2	S445F	Predictive	Supports	Resistance	Childhood Acute Lymphocytic Leukemia	Thioguanine,Mercaptopurine	Meyer et al., 2013
D	NT5C2	R367Q	Predictive	Does Not Support	Resistance	Childhood Acute Lymphocytic Leukemia	Prednisolone,Doxorubicin,Cytarabine,Gemcitabine	Meyer et al., 2013
D	NT5C2	R238W	Predictive	Does Not Support	Resistance	Childhood Acute Lymphocytic Leukemia	Gemcitabine,Cytarabine,Doxorubicin,Prednisolone	Meyer et al., 2013
D	NT5C2	S445F	Predictive	Does Not Support	Resistance	Childhood Acute Lymphocytic Leukemia	Prednisolone,Doxorubicin,Gemcitabine,Cytarabine	Meyer et al., 2013
B	NT5C2	Mutation	Prognostic	Supports	Poor Outcome	Childhood Acute Lymphocytic Leukemia		Meyer et al., 2013
B	BRAF	Non-V600	Predictive	Does Not Support	Sensitivity/Response	Solid Tumor	Trametinib	Johnson et al., 2020
D	NT5C2	R367Q	Predictive	Supports	Resistance	Childhood Acute Lymphocytic Leukemia	Thioguanine,Mercaptopurine	Meyer et al., 2013

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