Table 3 Variants of unclassified significance and in silico prediction in South American Lynch syndrome families
From: Mutation spectrum in South American Lynch syndrome families
Country | Gene | Nucleotide | Consequence | Exon | Polyphen | SIFT | MAP_MMR | P-mut | PON-MMR | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Score | Classification | Score | Classification | Score | Classification | Score | Classification | Score | Classification | |||||
Uruguay | MLH1 | c.289 T > G | p.Y97D | 3 | 0.999 | Probably damaging | 0 | Damaging | 10.51 | Damaging | 0.7266 | Pathological | 0.83 | Pathogenic |
Argentina | MLH1 | c.336 T > A | p.H112Q | 4 | 1 | Probably damaging | 0.03 | Damaging | 2.430 | Neutral | NA | NA | 0.61 | VUS |
Colombia | MLH1 | c.421C > G | p.P141A | 5 | 0.329 | Benign | 0.05 | Damaging | 3.15 | Borderline deleterious | 0.4928 | Neutral | 0.48 | VUS |
Chile | MLH1 | c.794G > C | p.R265P | 10 | 1 | Probably damaging | 0 | Damaging | 38.09 | Damaging | 0.7623 | Pathological | 0.83 | Pathogenic |
Brazil | MLH1 | c.1013A > G | p.N338S | 11 | 0.506 | Possibly Damaging | 0.05 | Damaging | 2.78 | Neutral | 0.2551 | Neutral | 0.38 | VUS |
Colombia | MLH1 | c.1558 + 14G > A | 13 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | |
Argentina | MLH1 | c.1724G > A | p.R575K | 15 | 0.001 | Benign | 0.40 | Tolerated | 1.490 | Neutral | NA | NA | 0.15 | Neutral |
Brazil | MLH1 | c.1853A > C | p.K618T | 16 | 0.997 | Probably damaging | 0.02 | Damaging | 5.11 | Damaging | 0.7802 | Pathological | 0.67 | VUS |
Colombia | MLH1 | c.1918C > T | p.P640T | 17 | 1 | Probably damaging | 0 | Damaging | 17.77 | Damaging | 0.6534 | Pathological | 0.83 | Pathogenic |
Brazil | MLH1 | c.2252_2253dupAA | p.V752Kfs*26 | 19 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
Brazil | MSH2 | c.2187G > T | p.M729I | 13 | 2.293 | Probably damaging | 0 | Damaging | 21.99 | Damaging | 0.1988 | Neutral | 0.71 | VUS |