Next-generation sequencing in familial breast cancer patients from Lebanon

BMC Medical Genomics

Table 3 BRCA variations found and their evaluations in BRCA databases

Gene	Variation	BIC database Clinically Importance/ Clinical Classification	COSMIC	Leiden Open Variation Database (LOVD)	BRCA Exchange
BRCA1	c.G131T p.C44F	unknown/ pending	Not found	Affects function	Not found
	c.A536G p.Y179C	unknown/ pending	Not found	Does not affect function	Benign
	c.C4327T p.R1443*	yes/ class 5	Neutral	Affects function	Not found
	c.A1067G p.Q356R	unknown/ pending	Pathogenic	Does not affect function	Benign
	c.5090_5093delGTTA p.L1697fs	Not found	Not found	Not found	Not found
BRCA2	c.C65T p.A22V	unknown/pending	Not found	Effect unknown	Not found
	c.G223C p.A75P	unknown/ pending	Not found	Does not affect function	Benign
	c.658_659delGT p.V220I*	yes/ class 5	Not found	Affects function	Not found
	c.C4061T p.T1354M	unknown/ pending	Neutral	Does not affect function	Benign
	c.G4258T p.D1420Y	no/ pending	Neutral	Does not affect function	Benign
	c.C5744T p.T1915M	no/ class 1	Neutral	Does not affect function	Not found
	c.G8775C p.Q2925H	unknown/ pending	Not found	Effect unknown	Not found
	c.A1114C p.N372H	no/ class 1	Neutral	Not found	Benign
	c.C1151T p.S384F	no/ pending	Not found	Not found	Benign

Descriptions of the classes in the BIC database:
Class 1: Not pathogenic/low clinical significance: There is significant evidence against this variant being a dominant high-risk pathogenic mutation
Class 5: Pathogenic: There is significant evidence to suggest that this variant is a dominant high-risk pathogenic mutation

ISSN: 1755-8794