CIViC Evidence Items

21 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	EZH2	Y646	Diagnostic	Supports	Positive	Diffuse Large B-cell Lymphoma		Morin et al., 2010
B	EZH2	Y646	Diagnostic	Supports	Positive	Follicular Lymphoma		Morin et al., 2010
B	EZH2	Intron 6 Mutation	Prognostic	Supports	Poor Outcome	Colorectal Cancer		Crea et al., 2012
B	EZH2	Overexpression	Prognostic	Supports	Poor Outcome	Cancer		Jiang et al., 2016
B	EZH2	Mutation	Prognostic	Supports	Better Outcome	Follicular Lymphoma		Pastore et al., 2015
D	EZH2	Y646F	Oncogenic	Supports	Oncogenicity	B-cell Lymphoma		Souroullas et al., 2016
B	EZH2	Y646S OR EZH2 Y646F OR EZH2 Y646H OR EZH2 Y646C OR EZH2 Y646N OR EZH2 A692V OR EZH2 A682G	Predictive	Supports	Sensitivity/Response	Follicular Lymphoma	Tazemetostat	Izutsu et al., 2021
B	EZH2	Mutation	Prognostic	Supports	Poor Outcome	Myelodysplastic Syndrome		Nikoloski et al., 2010
D	EZH2	Y646	Functional	Supports	Gain of Function			Sneeringer et al., 2010
D	EZH2	Y646F	Functional	Supports	Gain of Function			Yap et al., 2011
D	EZH2	Y646N	Functional	Supports	Gain of Function			Yap et al., 2011
D	EZH2	Y646F	Functional	Supports	Loss of Function			Yap et al., 2011
D	EZH2	Y646N	Functional	Supports	Loss of Function			Yap et al., 2011
D	EZH2	Y646H	Functional	Supports	Gain of Function			Yap et al., 2011
D	EZH2	Y646S	Functional	Supports	Gain of Function			Yap et al., 2011
A	EZH2	Activating Mutation	Predictive	Supports	Sensitivity/Response	Follicular Lymphoma	Tazemetostat	Morschhauser et al., 2020
D	EZH2	Y646	Predictive	Supports	Sensitivity/Response	Skin Melanoma	GSK126	Tiffen et al., 2015
C	EZH2	Y646H	Predictive	Supports	Sensitivity/Response	Diffuse Large B-cell Lymphoma	Tazemetostat	Italiano et al., 2018
D	EZH2	Y646C	Functional	Supports	Loss of Function			Ernst et al., 2010
B	EZH2	Activating Mutation	Predictive	Supports	Sensitivity/Response	Follicular Lymphoma	Tazemetostat	Munakata et al., 2021
B	EZH2	expression	Predictive	Supports	Sensitivity/Response	Diffuse Large B-cell Lymphoma Germinal Center B-cell Type	Tazemetostat	Munakata et al., 2021