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	G262D	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	G266R	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	G266E	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	A276V	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	P278S	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	L308M	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	L323P	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	Q144P	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	R158H	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	P219H	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	Y220H	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	E224K	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	Y234H	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	T230S	Functional	Does Not Support	Dominant Negative			Monti et al., 2002
D	TP53	H168Y	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	P177S	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	P177F	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	P177H	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	H179Y	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	N239S	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	S241T	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	S241F	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	C242Y	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	G244S	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	G245S	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	G245D	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	M246L	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	R273C	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	V274F	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	G279E	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	D281N	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	D281E	Functional	Supports	Dominant Negative			Monti et al., 2002
D	TP53	R248W	Functional	Supports	Dominant Negative			Monti et al., 2002
B	COL1A1::PDGFB	Fusion	Oncogenic	Supports	Oncogenicity	Dermatofibrosarcoma Protuberans		Takahira et al., 2007
C	FGFR1	N546K	Predictive	Supports	Sensitivity/Response	Pilocytic Astrocytoma	Pemigatinib	Capone et al., 2022
C	QKI::RAF1	Fusion	Predictive	Supports	Sensitivity/Response	Spindle Cell Sarcoma	Trametinib	Panet et al., 2022
C	KANK4::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Pancreatic Acinar Cell Adenocarcinoma	Alectinib	Gaule et al., 2022
B	EWSR1::FLI1	Fusion	Diagnostic	Supports	Positive	Ewing Sarcoma		Zoubek et al., 1994
C	EWSR1::ERG	Fusion	Diagnostic	Supports	Positive	Ewing Sarcoma		Zoubek et al., 1994
D	FGFR3	Overexpression	Predictive	Supports	Sensitivity/Response	Cancer	R3Mab	Qing et al., 2009
D	FGFR3	G370C	Predictive	Does Not Support	Resistance	Cancer	R3Mab	Qing et al., 2009
D	FGFR3	Y373C	Predictive	Does Not Support	Resistance	Cancer	R3Mab	Qing et al., 2009
D	FGFR3	K650E	Predictive	Does Not Support	Resistance	Cancer	R3Mab	Qing et al., 2009
C	KANK1::NTRK2	Fusion	Predictive	Supports	Sensitivity/Response	Glioblastoma	Larotrectinib	Shepherd et al., 2021
B	MS4A1	Mutation	Predictive	Supports	Resistance	Diffuse Large B-cell Lymphoma	R-CHOP Regimen	Rushton et al., 2020
D	FGFR3	K650E	Functional	Supports	Gain of Function			Webster et al., 1996
D	FGFR3	K650D	Functional	Supports	Gain of Function			Webster et al., 1996
C	EML4::NTRK3	Fusion	Diagnostic	Supports	Positive	Congenital Fibrosarcoma		Church et al., 2018
C	EML4::NTRK3	Fusion	Diagnostic	Supports	Positive	Congenital Mesoblastic Nephroma		Church et al., 2018
D	FGFR3	K650E	Functional	Supports	Gain of Function			Nowroozi et al., 2005

Page 61 of 96

Previous Next