Table 1.

Summary of variants detected during comprehensive screening of 319 patients using the Oncomine™ BRCA Expanded panel.

Gene	Transcript	mRNA length	Total n of variants	n and (%) of novel variants	% of intronic variants	% of coding variants	% of missense variants	% of synonymous variant	% of stop-gain variants	% of in- frame deletions	% of frameshift variants	n and (%) of actionable variants
ATM*	NM 000051.4	12,915 nt	155	16 (10.3)	48	52	69	26	I	I	0	2 ( 1.3)
BARD*	NM 000465.4	5,478 nt	55	3 (5.5)	38	62	73	17	3	3	3	2 (3.6)
BRCA1*	NM 007294.4	7,088 nt	80	9 (11.3)	27	73	59	25	4	4	9	11 (13.8)
BRCA2*	NM 000059.4	1 1,954 nt	120	9 (7.5)	22	78	55	29	6	3	7	20 (16.7)
BRIP1*	NM 032043.3	8,182 nt	39	4 (10.3)	64	36	71	29	0	0	0	2 (5. 1)
CDK12	NM 016507.4	8,287 nt	31	3 (9.7)	39	61	44	56	0	0	0	0 (0)
CHEK2*	NM 007194.4	1,844 nt	20	1 (5.0)	43	57	40	40	10	0	10	4 (20.0)
FANCD2	NM 033084.6	4,879 nt	74	7 (9.5)	55	45	39	61	0	0	0	I (1.4)
PALB2*	NM 024675.4	4,008 nt	37	4 (10.8)	53	47	71	24	0	0	6	I (2.7)
PPP2R2A	NM 002717.4	3,923 nt	16	1 (6.3)	71	29	0	100	0	0	0	0 (0)
MRE11	NM 005591.4	6,841 nt	35	3 (8.6)	56	44	69	31	0	0	0	0 (0)
NBN*	NM 002485.5	4,622 nt	45	3 (6.7)	54	46	59	41	0	0	0	0 (0)
RAD51B	NM 001321818.2	1,273 nt	33	3 (9.1)	61	39	67	33	0	0	0	0 (0)
RAD54L	NM 003579.4	3,078 nt	35	2 (5.7)	40	60	58	37	0	5	0	0 (0)
TP53*	NM 000546.6	2,512 nt	29	2 (6.9)	65	35	44	44	0	0	1 1	1 (3.5)
Total			804	70 (8.7)	45	55	59	33	3	2	4	46 (5.7)

n, number; *genes included in the latest National Comprehensive Cancer Network (NCCN guidelines, version 2.2022).

Variants observed in the untranslated regions, together with splice-site variants are included as intronic variants.