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Table 3 Summary of results

From: Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

Variant Original odds for causalitya Original conclusion Posterior probability of pathogenicity from revised multifactorial likelihood analysis (Table 1) Functional data (Table 2) Conclusion
BRCA1 R1699Q 141:1 UV 54.3% Intermediate on 1 and defective on 2 of 5 criteria Possible low to moderate risk
BRCA1 A1708V 41:1 UV 68.8% Intermediate on 1 and defective on 1 of 5 criteria Possible low to moderate risk
BRCA1 A1708E 262:1 UV 99.9% Defective on 4 of 5 criteria High risk
BRCA1 G1738R 5,871:1 Pathogenic 96.3% Defective on 4 of 5 criteria High risk
  1. aChenevix-Trench and colleagues [5]. UV, unclassified variant.