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	C242S	Functional	Supports	Loss of Function			Jordan et al., 2010
D	TP53	C242Y	Functional	Supports	Loss of Function			Jordan et al., 2010
D	MTOR	T1977K	Functional	Supports	Gain of Function			Grabiner et al., 2014
D	TP53	E285K	Functional	Supports	Unaltered Function			Jordan et al., 2010
D	TP53	G154S	Functional	Supports	Loss of Function			Jordan et al., 2010
D	PIK3CA	G1007R	Functional	Supports	Gain of Function			Ng et al., 2018
D	PIK3CA	N1044K	Functional	Supports	Gain of Function			Ng et al., 2018
D	MTOR	R2152C	Functional	Supports	Unaltered Function			Grabiner et al., 2014
C	H3C2	K27M	Diagnostic	Supports	Positive	Brain Glioblastoma Multiforme		Wu et al., 2012
D	EGFR	E114K	Functional	Supports	Unaltered Function			Ng et al., 2018
C	NTRK3	F617L	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Larotrectinib	Hong et al., 2019
C	NTRK1	G595R AND NTRK1 G667S	Predictive	Supports	Resistance	Lung Non-small Cell Carcinoma	Larotrectinib	Hong et al., 2019
B	HRAS	Mutation	Predictive	Supports	Sensitivity/Response	Bladder Urothelial Carcinoma	Tipifarnib	Lee et al., 2020
B	HRAS	Mutation	Predictive	Supports	Sensitivity/Response	Head And Neck Squamous Cell Carcinoma	Tipifarnib	Ho et al., 2021
D	ERBB2	V777L	Predictive	Supports	Sensitivity/Response	Cancer	Lapatinib	Kancha et al., 2011
D	EZH2	Y646C	Functional	Supports	Loss of Function			Ernst et al., 2010
C	ACVR1	G328V	Diagnostic	Supports	Positive	Diffuse Midline Glioma, H3 K27M-mutant		Taylor et al., 2014
C	ACVR1	R206H	Diagnostic	Supports	Positive	Diffuse Midline Glioma, H3 K27M-mutant		Taylor et al., 2014
C	ACVR1	G328W	Diagnostic	Supports	Positive	Diffuse Midline Glioma, H3 K27M-mutant		Taylor et al., 2014
C	ACVR1	G356D	Diagnostic	Supports	Positive	Diffuse Midline Glioma, H3 K27M-mutant		Taylor et al., 2014
D	TPM3::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Cancer	Entrectinib	Drilon et al., 2016
C	NTRK1	Amplification	Predictive	Supports	Sensitivity/Response	Solid Tumor	Larotrectinib	Hong et al., 2019
C	VHL	Q164R (c.491A>G)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Chen et al., 1995
D	TP53	P152T	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	R156P	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	R181C	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	R181G	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	R181H	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	D259V	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	E286K	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	R283H	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	Y163N	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	L257P	Functional	Supports	Dominant Negative			Monti et al., 2002
C	KANK1::NTRK2	Fusion	Oncogenic	Supports	Oncogenicity	Sarcoma		Chen et al., 2021
D	FGFR3	K650N	Functional	Supports	Gain of Function			Bellus et al., 2000
D	FGFR3	K650Q	Functional	Supports	Gain of Function			Bellus et al., 2000
D	FGFR3	K650M	Functional	Supports	Gain of Function			Bellus et al., 2000
D	FGFR3	K650T	Functional	Supports	Gain of Function			Bellus et al., 2000
A	v::NTRK2	Fusion	Predictive	Supports	Sensitivity/Response	Solid Tumor	Larotrectinib	Hong et al., 2020
D	FGFR3	K650Q	Functional	Supports	Gain of Function			Webster et al., 1996
D	FGFR3	K650L	Functional	Supports	Gain of Function			Webster et al., 1996
D	FGFR3	G380R	Functional	Supports	Gain of Function			Webster et al., 1996
C	EML4::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Papillary Thyroid Carcinoma	Entrectinib	Chu et al., 2020
C	EML4::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Entrectinib	Murray et al., 2021
C	VOPP1::EGFR	Fusion	Predictive	Supports	Resistance	Lung Adenocarcinoma	Icotinib	Wang et al., 2021
C	SCP2::NTRK1	Fusion	Oncogenic	Supports	Oncogenicity	Breast Cancer		Ross et al., 2020
C	SCP2::NTRK1	Fusion	Oncogenic	Supports	Oncogenicity	Breast Cancer		Ruiz-Cordero et al., 2020
C	EGFR	Amplification AND EGFR::SEPTIN14 Fusion	Predictive	Supports	Sensitivity/Response	Colon Adenocarcinoma	Erlotinib	Li et al., 2020
D	KLF5	E419K	Functional	Supports	Neomorphic			Zhang et al., 2018
D	KLF5	E419Q	Functional	Supports	Neomorphic			Zhang et al., 2018

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