A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer

Table 5 Summary of prioritized variants by gene

	Indel	Nonsense	Missense	Natural Splicing	Pseudoexon	SR Factor	TF	UTR Structure	UTR Binding	Total
ATM	0	0	14	2	0	18	0	0	1	34 ^a
BRCA1	2	0	2	0	1	7	1	0	0	13
BRCA2	0	2	3	0	2	4	0	0	0	11
CDH1	0	0	2	0	2	1	1	1	1	8
CHEK2	0	0	2	1	0	3	0	0	2	6 ^a
PALB2	1	2	3	0	0	3	1	0	0	10
TP53	0	0	1	0	0	0	2	0	2	5
Total	3	4	27	3	5	36	5	1	6

Three variants were prioritized under multiple categories: ATM chr11:108121730A > G (missense and SRFBS), CHEK2 chr22:29121242G > A (missense, UTR binding), and CHEK2 chr22:29130520C > T (missense, UTR binding)
^a Counts represent the number of unique variants identified (i.e. a variant is not counted twice if it appeared in multiple individuals)

ISSN: 1755-8794