Variant | Prior | Likelihood ratio | Posterior probability | ||
---|---|---|---|---|---|
Probability | Reference | Combined LR | Reference | ||
G1706E | 0.81 | Tavtigian (26) | 589 | Easton (27) | 0.9996 |
G1738R | 0.81 | Tavtigian (26) | 115 | Easton (27) | 0.998 |
L1764P | 0.29 | Tavtigian (26) | 347 | Easton (27) | 0.993 |
M1775R | 0.66 | Tavtigian (26) | 229^{a} | Miki (28) | 0.998 |
T1685I | 0.81 | Tavtigian (26) | 138 | Easton (27) | 0.998 |
V1688del | 0.35 | Easton (27) | 269 | Easton (27) | 0.993 |
F1662S | 0.01 | Tavtigian (26) | 5.13e-03 | Easton (27) | 0.00005 |
P1614S | 0.01 | Tavtigian (26) | 2.30e-09 | Easton (27) | <0.00001 |
P1859R | 0.01 | Tavtigian (26) | 3e-05 | Easton (27) | <0.00001 |
R1751Q | 0.01 | Tavtigian (26) | 6.76e-03 | Easton (27) | 0.00007 |
S1512I | 0.01 | Tavtigian (26) | <1e-10 | Tavtigian (29) | <0.00001 |
S1613G | 0.01 | Tavtigian (26) | <1e-10 | Tavtigian (29) | <0.00001 |
T1720A | 0.01 | Tavtigian (26) | <1e-10 | Easton (27) | <0.00001 |
V1534M | 0.01 | Tavtigian (26) | 4.8e-03 | Chenevix–Trench (30) | 0.00005 |
V1804D | 0.01 | Tavtigian (26) | 1.2e-03 | Easton (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.
↵^{a}Calculated using the LOD score of kindred 2099, the pedigree in which M1775R was first observed and found to segregate.