Table 1.

Summary of evidence excluding the functional data in favor of or against the pathogenicity of each of the 15 VUSs included in the analysis ‘blinded’ for purposes of model evaluation

VariantPriorLikelihood ratioPosterior probability
ProbabilityReferenceCombined LRReference
G1706E0.81Tavtigian (26)589Easton (27)0.9996
G1738R0.81Tavtigian (26)115Easton (27)0.998
L1764P0.29Tavtigian (26)347Easton (27)0.993
M1775R0.66Tavtigian (26)229aMiki (28)0.998
T1685I0.81Tavtigian (26)138Easton (27)0.998
V1688del0.35Easton (27)269Easton (27)0.993
F1662S0.01Tavtigian (26)5.13e-03Easton (27)0.00005
P1614S0.01Tavtigian (26)2.30e-09Easton (27)<0.00001
P1859R0.01Tavtigian (26)3e-05Easton (27)<0.00001
R1751Q0.01Tavtigian (26)6.76e-03Easton (27)0.00007
S1512I0.01Tavtigian (26)<1e-10Tavtigian (29)<0.00001
S1613G0.01Tavtigian (26)<1e-10Tavtigian (29)<0.00001
T1720A0.01Tavtigian (26)<1e-10Easton (27)<0.00001
V1534M0.01Tavtigian (26)4.8e-03Chenevix–Trench (30)0.00005
V1804D0.01Tavtigian (26)1.2e-03Easton (27)0.00001

NOTE: Columns 2 and 3 provide the sequence conservation-based prior probability and literature source; columns 4 and 5 provide the family and genetic data–based likelihood ratios and literature source; and column 5 provides the resulting estimated posterior probability of pathogenicity.

  • aCalculated using the LOD score of kindred 2099, the pedigree in which M1775R was first observed and found to segregate.