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Table 5 Summary of prioritized variants by gene

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

  Indel Nonsense Missense Natural Splicing Cryptic Splicing Pseudoexon SR Factor TF UTR Structure UTR Binding Total
ATM 0 0 14 2 0 0 18 0 0 1 34 a
BRCA1 2 0 2 0 0 1 7 1 0 0 13
BRCA2 0 2 3 0 0 2 4 0 0 0 11
CDH1 0 0 2 0 0 2 1 1 1 1 8
CHEK2 0 0 2 1 0 0 3 0 0 2 6 a
PALB2 1 2 3 0 0 0 3 1 0 0 10
TP53 0 0 1 0 0 0 0 2 0 2 5
Total 3 4 27 3 0 5 36 5 1 6  
  1. 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)
  2. a Counts represent the number of unique variants identified (i.e. a variant is not counted twice if it appeared in multiple individuals)