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Table 4 Severity scores applied to selected classes of potentially pathogenic rare variants

From: Rare key functional domain missense substitutions in MRE11A, RAD50, and NBNcontribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

Class Binary Graded #Variants Cases, n Controls, n
  severity severity    
Truncating and spliceogenic variants      
  Frameshift, excluding the last exon 1.0 6.0 4 2 3
  Nonsense, excluding the last exon 1.0 6.0 3 3 0
  Severe acceptor damage 1.0 5.7 1 1 0
  Moderate acceptor damage 1.0 2.4 0 0 0
  Severe donor damage 1.0 5.7 1 1 0
  Moderate donor damage 1.0 2.4 2 2 0
Missense      
  Key domain rMS, graded C0 0.0 0.0 4 4 1
  Key domain rMS, graded C15 1.0 1.0 1 1 0
  Key domain rMS, graded C25 1.0 2.0 6 6 1
  Key domain rMS, graded C35 1.0 3.0 1 0 1
  Key domain rMS, graded C45 1.0 4.0 3 3 0
  Key domain rMS, graded C55 1.0 5.0 0 0 0
  Key domain rMS, graded C65 1.0 6.0 8 10 1
  Key domain in-frame deletion 1.0 6.0 1 0 1
  1. Includes the RAD50 final exon truncating variant c.3852del4, which falls within the C-terminal ATPase domain (a key domain), which we consider analytically equivalent to a key domain rMS graded C65. rMS, rare missense substitution.