Prediction Aminotacidic Change | Splice Signal Detection | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Exon | cDNA | Protein Change | Align-GVGD | PANTHER (SubSPEC) | PROVEAN (Score) | SIFT (Score) | PolyPhen-2 (Prob.) | MutPred (Prob.) | SNP&GO (RI, EA) | 5’or 3′ score modification (% variation) | |
BRCA1 | 7 | c.412C > A | p.Leu138Ile | Prob. Not Deleterious (C0) | Neutral | Neutral (−0.167) | Tolerated | Benign (0.201) | Prob. Not Deleterious | Disease (4,0.714) | ||
(−0.156) | −0.056 | (0.233) | ||||||||||
I11 | c.4186-22G > A | NA | NA | NA | NA | NA | NA | NA | NA | Not alter splicing site | ||
11 | c.2146 T > A | p.Ser716Arg | Prob. Deleterious | Neutral | Neutral (−1.673) | Tolerated | Benign (0.002) | Prob. Not Deleterious | Neutral (3,0.354) | |||
(C65) | (−0.109) | (0.537) | (0.288) | |||||||||
11 | c.2368 A > G | p.Thr790Ala | Prob. Deleterious | Neutral (−2) | Deleterious (−3.873) | Tolerated (0.059) | Prob. Damaging (0.926) | Prob. Deleterious | Disease (6,0.775) | |||
(C55) | (0.419) | |||||||||||
11 | c.2876G > A | p.Arg959Lys | Prob. Deleterious | Neutral (−1) | Neutral (− 2.126) | Tolerated (0.081) | Prob. Damaging (0.0.81) | Prob. Deleterious | Disease (8,0.878) | |||
(C25) | (0.448) | |||||||||||
11 | c.3083G > A | p.Arg1028His | Prob. Deleterious | Neutral | Neutral (0.117) | Tolerated (0.304) | Benign (0) | Prob. Not Deleterious | Disease (4,0.723) | |||
(C25) | (−2.906) | (0.391) | ||||||||||
11 | c.3506A > C | p.Asp1169Ala | Prob. Deleterious | Neutral | Neutral (2.020) | Damaging | Benign (0.077) | Prob. Not Deleterious | Disease (2,0.580) | |||
(C 65) | (−1.960) | (0.036) | (0.267) | |||||||||
11 | c.3978 T > G | p.His1326Gln | Prob. Deleterious | Neutral | Neutral (−1.689) | Damaging | Benign (0.294) | Prob. Not Deleterious | Disease (4,0.708) | |||
(C15) | (−1.918 | (0.013) | (0.177) | |||||||||
11 | c.4033G > A | p.Glu1345Lys | Prob. Deleterious | Neutral (−1.767) | Neutral (−0.754) | Damaging | Prob. Damaging (0.48) | Prob. Not Deleterious | Disease (6,0.799) | |||
(C55) | (0.002) | (0.186) | ||||||||||
BRCA2 | I10 | c.1909-37dup | NA | NA | NA | NA | NA | NA | NA | NA | MaxEnt | 5.19 3.47 (−33.14%) |
HSF: | 73.17 72.04 (−1.54%) | |||||||||||
I10 | c.1909-33delA | NA | NA | NA | NA | NA | NA | NA | NA | GS: | 6.5 7.0 (7.14%) | |
11 | c.2147A > G | p.Gln716Arg | Prob. Not Deleterious (C0) | Neutral | Neutral | Tolerated | Benign | Neutral | Disease | |||
(−1,58) | (−1.79) | (−0,12) | (0.001) | (0.111) | (4, 0.703) | |||||||
11 | c.2313A > T | p.Leu771Phe | Prob. Not Deleterious (C0) | Neutral | Deleterious | Damaging | Damaging | Neutral | Disease | |||
(−2,078) | (−3,155) | (0.03) | 1 | (0.221) | (2, 0.588) | |||||||
11 | c.2386G > A | p.Asp796Asn | Prob. Not Deleterious (C0) | Neutral | Neutral | Damaging | Benign | Neutral | Disease | |||
(−1.5) | (−1.678) | (0.01) | (0.031) | (0.18) | (6, 0.779) | |||||||
11 | c.2454 T > A | p.Asn818Lys | Prob. Not Deleterious (C0) | Neutral | Deleterious | Damaging | Benign | Neutral | Disease | |||
(−1.1) | (−4.026) | (0.01) | (0.024) | (0.346) | (8, 0.916) | |||||||
11 | c.2574dup | p.Val859Ser*22 | NA | NA | NA | Damaging | NA | NA | NA | |||
11 | c.3095A > T | p.Lys1032Ile | Prob. Not Deleterious (C0) | Neutral | Deleterious | Damaging | Prob. Damaging | Prob. Deleterious | Disease | |||
(−2.6) | (−7.108) | 0 | (0.971) | (0.504) | (9, 0.929) |