Table 3 Pathogenic missense variants according to the Condel algorithm
Variant | Gene | rs | Count | Condel count | Condel max | Condel algorithms | Confirmed by other models |
|---|---|---|---|---|---|---|---|
Q356R | BRCA1 | rs1799950 | 72 | 12 | 0.70898 | 4 | no |
S1040N | BRCA1 | rs4986852 | 11 | 7 | 0.66416 | 3 | no |
K1690N | BRCA2 | rs56087561 | 10 | 2 | 0.536316 | 2 | no |
N3124I | BRCA2 | rs28897759 | 6 | 2 | 0.618793 | 4 | yes |
R1347G | BRCA1 | rs28897689 | 6 | 7 | 0.540272 | 2 | no |
Q2858H | BRCA2 | - | 3 | 2 | 0.539229 | 3 | novel |
V2969M | BRCA2 | rs59004709 | 2 | 2 | 0.644176 | 3 | no |
D1152N | BRCA1 | rs80357175 | 2 | 7 | 0.596261 | 2 | no |
T1011R | BRCA2 | rs80358548 | 1 | 2 | 0.531615 | 2 | no |
E2236K | BRCA2 | rs41293503 | 1 | 2 | 0.591769 | 2 | no |
S2326C | BRCA2 | - | 1 | 2 | 0.599866 | 2 | novel |
I2627F | BRCA2 | rs80359014 | 1 | 2 | 0.663608 | 4 | yes |
L2865F | BRCA2 | - | 1 | 2 | 0.593408 | 3 | novel |
V1791L | BRCA1 | rs145758886 | 1 | 11 | 0.574356 | 3 | no |
Y1703C | BRCA1 | - | 1 | 14 | 0.622922 | 4 | novel |
A1669S | BRCA1 | rs80357087 | 1 | 13 | 0.540083 | 3 | no |
M1628T | BRCA1 | rs4986854 | 1 | 13 | 0.526967 | 1 | no |
E1346K | BRCA1 | rs80357407 | 1 | 7 | 0.540139 | 1 | no |
R866H | BRCA1 | rs80356911 | 1 | 7 | 0.676062 | 4 | no |
N723D | BRCA1 | rs4986845 | 1 | 7 | 0.543268 | 1 | no |
N550H | BRCA1 | rs56012641 | 1 | 9 | 0.681765 | 4 | no |
F486L | BRCA1 | rs55906931 | 1 | 9 | 0.558913 | 1 | no |
Y179C | BRCA1 | rs56187033 | 1 | 20 | 0.588385 | 4 | no |
G602R | BRCA1 | - | 1 | 14 | 0.660547 | 4 | novel |