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Table 3 Pathogenic missense variants according to the Condel algorithm

From: New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

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
  1. Condel count: number of transcripts in which a given variant is deleterious; Condel max: maximal score from Condel; Condel algorithms: maximum number of algorithms (used in Condel score computation) in which a given variant is marked as deleterious.