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
D	TP53	R342P	Functional	Supports	Loss of Function			Kamada et al., 2011
D	TP53	L330P	Functional	Supports	Loss of Function			Kamada et al., 2011
D	TP53	L330R	Functional	Supports	Loss of Function			Kamada et al., 2011
D	TP53	R337P	Functional	Supports	Loss of Function			Kamada et al., 2011
D	TP53	L344P	Functional	Supports	Loss of Function			Kamada et al., 2011
D	PIM1	L2V	Predictive	Supports	Resistance	Diffuse Large B-cell Lymphoma Activated B-cell Type	Ibrutinib	Kuo et al., 2016
D	PIM1	P81S	Predictive	Supports	Resistance	Diffuse Large B-cell Lymphoma Activated B-cell Type	Ibrutinib	Kuo et al., 2016
D	PIM1	S97N	Predictive	Supports	Resistance	Diffuse Large B-cell Lymphoma Activated B-cell Type	Ibrutinib	Kuo et al., 2016
B	SMARCB1	Loss	Oncogenic	Supports	Oncogenicity	Epithelioid Sarcoma		Sullivan et al., 2013
B	ACVR1	Mutation	Diagnostic	Supports	Positive	Diffuse Midline Glioma, H3 K27M-mutant		Taylor et al., 2014
D	EML4::ALK	Fusion AND ABCB1 Overexpression	Predictive	Does Not Support	Resistance	Lung Adenocarcinoma	Alectinib,Lorlatinib	Katayama et al., 2016
C	PIK3CA	L938*	Predictive	Does Not Support	Resistance	Colorectal Cancer	Cetuximab	Xu et al., 2017
D	EGFR	G598V	Predictive	Supports	Sensitivity/Response	Cancer	Erlotinib	Lee et al., 2006
D	TP53	R175H	Predictive	Supports	Resistance	Pharynx Squamous Cell Carcinoma	MDM2 Inhibitor AMGMDS3	Saiki et al., 2015
D	ABL2	W469C	Predictive	Does Not Support	Sensitivity/Response	Lung Adenocarcinoma	Imatinib,Dasatinib	Testoni et al., 2016
B	PTPRB	Loss-of-function	Diagnostic	Supports	Positive	Angiosarcoma		Behjati et al., 2014
D	ETV6::NTRK3	Fusion AND NTRK3 G623R	Predictive	Supports	Resistance	Cancer	Entrectinib,ALK/TRK Inhibitor TSR-011,Crizotinib,Larotrectinib	Drilon et al., 2016
D	LMNA::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Cancer	Entrectinib	Drilon et al., 2016
D	ETV6::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Cancer	Entrectinib	Drilon et al., 2016
D	VCL::NTRK2	Fusion	Predictive	Supports	Sensitivity/Response	Cancer	Entrectinib	Drilon et al., 2016
D	AFAP1::NTRK2	Fusion	Predictive	Supports	Sensitivity/Response	Cancer	Entrectinib	Drilon et al., 2016
D	ETV6::NTRK2	Fusion	Predictive	Supports	Sensitivity/Response	Cancer	Entrectinib	Drilon et al., 2016
B	BCOR::CCNB3	Fusion	Diagnostic	Supports	Positive	Sarcoma With BCOR Genetic Alterations		Kao et al., 2018
C	CIC::DUX4	Fusion	Oncogenic	Supports	Oncogenicity	CIC-rearranged Sarcoma		Kawamura-Saito et al., 2006
D	AR	R726L	Functional	Supports	Loss of Function			Hay et al., 2012
D	SF3B1	K700E	Predictive	Supports	Sensitivity/Response	Leukemia	Etoposide,Olaparib	Lappin et al., 2022
B	ERCC1	Underexpression	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Gemcitabine,Carboplatin	Reynolds et al., 2009
B	RRM1	Underexpression	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Carboplatin,Gemcitabine	Reynolds et al., 2009
D	IDH1	R132C	Predictive	Supports	Sensitivity/Response	Cancer	Olaparib	Sulkowski et al., 2017
B	ERCC1	Underexpression	Predictive	Supports	Sensitivity/Response	Epithelial Ovarian Cancer	Platinum Compound	Mesquita et al., 2019
C	VHL	V87fs (c.255_256insC)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Chen et al., 1995
C	VHL	N150fs (c.448delA)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Chen et al., 1995
C	VHL	E55fs (c.163delG)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Chen et al., 1995
D	CTCF	K365T	Functional	Supports	Gain of Function			Marshall et al., 2017
B	KIT	EXPRESSION	Predictive	Supports	Sensitivity/Response	Glioblastoma	Sunitinib	Hutterer et al., 2014
C	VHL	Null (Large deletion)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Chen et al., 1995
B	SSTR5	expression	Predictive	Supports	Sensitivity/Response	Neuroendocrine Tumor	Pasireotide	Cives et al., 2015
D	TP53	P98S	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	P98L	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	Y126D	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	Y126S	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	K139E	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	P151S	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	P151H	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	P152L	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	I162F	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	Y163H	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	Y236S	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	L252F	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	E258K	Functional	Does Not Support	Dominant Negative			Monti et al., 2002

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