Table 3.
Spectrum of MMR variants in Latin America LS families
| Gene | cNomenclature | pNomenclature | Exon | Reported/Current Study classification | References | Country | Number of families | RNA splicing-dedicated in silico analysis | ||
|---|---|---|---|---|---|---|---|---|---|---|
| WT MaxEntScan score | Variant MaxEntScan score | Difference in MaxEntScan score between variant and WT (%) | ||||||||
| MLH1 | c.(?_-198)_116 +?del | 1 | Class 5 | InSIGHT | Chile | 2 | nd | nd | nd | |
| c.83C > T | p.Pro28Leu | 1 | Class 5 | InSIGHT | Brazil | 2 | 8.60 | 8.60 | 0 | |
| c.91_92delinsTG | p.Ala31Cys | 1 | Class 3 | InSIGHT | Uruguay | 1 | 8.60 | 8.60 | 0 | |
| c.116G > A | p.Cys39Tyr | 1 | Class 4 | InSIGHT | Argentina | 1 | 8.60 | 2.61 | −70 | |
| c.117-1G > T | 1i | Class 5 | HGMD | Brazil | 1 | 7.22 | 0.00 | −100 | ||
| c.117-?_207 +?del | p.Cys39* | 2 | Class 5 | InSIGHT | Brazil | 1 | nd | nd | nd | |
| c.117-691_306 + 1011del | p.Cys39Trpfs*6 | 2–3 | Class 5 | InSIGHT | Mexico | 1 | 7.22 | 7.22 | 0 | |
| c.119delT | p.Leu40* | 2 | Class 5 | InSIGHT | Uruguay | 1 | 7.22 | 7.25 | 0 | |
| c.122A > G | p.Asp41Gly | 2 | Class 3 | InSIGHT | Brazil | 1 | 7.22 | 7.22 | 0 | |
| c.199G > A | p.Gly67Arg | 2 | Class 5 | InSIGHT | Argentina | 1 | 10.45 | 10.45 | 0 | |
| c.211G > T | p.Glu71* | 3 | Class 5 | InSIGHT | Brazil | 1 | 8.11 | 8.11 | 0 | |
| c.225delT | p.Ile75Metfs | 3 | Not reported/Class 5 | Current study | Brazil | 1 | 8.11 | 8.11 | 0 | |
| c.289 T > G | p.Tyr97Asp | 3 | Class 3 | 32 | Uruguay | 2 | 9.85 | 9.85 | 0 | |
| c.306 + 5G > A | 3i | Class 5 | UMD, HGMD | Brazil | 1 | 9.85 | 7.20 | −27 | ||
| c.307-2A > G | 1i | Class 5 | UMD (modified from 51) | Guatemala | 1 | 10.90 | 0.00 | −100 | ||
| c.332C > T | p.Ala111Val | 4 | Class 4 | InSIGHT | Brazil | 1 | 10.90 | 10.90 | 0 | |
| C.336 T > A | p.His112Gln | 4 | Class 3 | 32 | Argentina | 1 | 10.90 | 10.90 | 0 | |
| c.350C > T | p.Thr117Met | 4 | Class 5 | InSIGHT | Uruguay, Argentina | 5 | 8.73 | 8.73 | 0 | |
| c.421C > G | p.Pro141Ala | 5 | Class 3 | 12 | Colombia | 1 | 10.65 | 10.65 | 0 | |
| c.454-501_546-1098del | p.Glu153Phefs*8 | 5i | Class 5 | InSIGHT | Uruguay | 1 | 6.39 | 6.39 | 0 | |
| c.503dupA | p.Asn168Lysfs*4 | 6 | Class 5 | InSIGHT | Chile | 1 | 8.68 | 8.68 | 0 | |
| c.503delA | p.Glu172Asnfs*30 | 6 | Class 5 | 32 | Brazil | 1 | 8.68 | 8.68 | 0 | |
| c.545 + 3A > G | p.Glu153Valfs*9 | 6i | Class 5 | InSIGHT | Brazil | 2 | 8.68 | 4.95 | −43 | |
| c.588 + 2 T > Ab | 7i | Class 4 | 26 | Brazil | 1 | 9.72 | 0.00 | −100 | ||
| c.588 + 5G > C | 7i | Class 3 | InSIGHT | Brazil | 1 | 9.72 | 4.33 | −55 | ||
| c.588 + 5G > T | 7i | Not reported | Current study | Argentina | 1 | 9.72 | 3.64 | −63 | ||
| c.665delA | p.Asn222Metfs*7 | 8 | Class 5 | InSIGHT | Uruguay | 4 | 9.22 | 9.22 | 0 | |
| c.676C > T | p.Arg226* | 8 | Class 5 | InSIGHT | Argentina, Mexico | 2 | 9.22 | 7.12 | −23 | |
| c.677G > Ac | p.Gln197Argfs*8 | 8 | Class 5 | InSIGHT | Argentina, Brazil | 2 | 9.22 | 5.00 | −46 | |
| c.677 + 1G > A | 8i | Class 4 | InSIGHT | Brazil | 2 | 9.22 | 0.00 | −100 | ||
| c.677 + 5G > A | 8i | Class 4 | UMD | Chile, Argentina | 2 | 9.22 | 4.42 | −52 | ||
| c.779 T > G | p.Leu260Arg | 9 | Class 5 | InSIGHT | Brazil | 1 | 10.43 | 10.43 | 0 | |
| c.790 + 1G > A | p.Glu227_Ser295del | 9i | Class 5 | InSIGHT | Chile, Colombia | 3 | 10.43 | 0.00 | −100 | |
| c.791–4_795delTTAGATCGT | 10 | Class 5 | 26 | Brazil | 2 | 9.42 | 0.00 | −100 | ||
| c.794G > C d | p.Arg265Pro | 10 | Not reported | 80 | Chile | 1 | 9.42 | 9.42 | 0 | |
| c.884 + 5 T > C | 10i | Not reported | Current study | Argentina | 1 | 9.43 | 10.52 | 12 | ||
| c.888_890delAGAinsC | p.Leu296Phefs | 11 | Not reported/Class 5 | Current study | Brazil | 1 | 10.46 | 10.46 | 0 | |
| c.901C > T | p.Gln301* | 11 | Class 5 | InSIGHT | Chile | 1 | 10.46 | 10.46 | 0 | |
| c.911delA | p.Asp304Valfs*63 | 11 | Not reported/Class 5 | Current study | Uruguay | 1 | 10.46 | 10.46 | 0 | |
| c.997_1000delAAGC | p.Lys333Serfs*33 | 11 | Class 5 | 78 | Chile | 1 | 7.20 | 7.20 | 0 | |
| c.1013A > G | p.Asn338Ser | 11 | Class 3 | InSIGHT | Brazil | 1 | 7.20 | 7.20 | 0 | |
| c.1023delG | p.Met342Cysfs*25 | 11 | Class 5 | InSIGHT | Puerto Rico | 2 | 7.20 | 7.20 | 0 | |
| c.1038 + 1G > T | p.Thr347PhefsX14 | 11i | Class 5 | 31 | Chile | 1 | 7.20 | 0.00 | −100 | |
| c.1039-6delT | 11i | Not reported | Current study | Argentina | 2 | 7.50 | 9.13 | 22 | ||
| c.1039-8T_1558?896Tdup | p.520Vfs564X | 12–13 | Class 5 | 23 | Colombia | 2 | nd | nd | nd | |
| c.1105dupT | 12 | Class 5 | Modified from 51 | Mexico | 1 | 7.50 | 7.50 | 0 | ||
| c.1225_1259del | p.Gln409* | 12 | Class 5 | UMD | Mexico | 1 | 9.99 | 9.99 | 0 | |
| c.1276C > T | p.Gln426* | 12 | Class 5 | InSIGHT | Brazil | 7 | 9.99 | 9.99 | 0 | |
| c.1333C > T | p.Gln445* | 12 | Class 5 | 68 | Brazil | 1 | 9.99 | 9.99 | 0 | |
| c.1360G > C | p.Gly454Arg | 12 | Class 3 | InSIGHT | Uruguay | 1 | 9.99 | 9.99 | 0 | |
| c.1459C > T | p.Arg487* | 13 | Class 5 | InSIGHT | Brazil | 1 | 11.66 | 11.66 | 0 | |
| c.1500_1502delCATc,d | p.Ile501del | 13 | Class 3 | 11 | Brazil | 1 | 9.15 | 9.15 | 0 | |
| c.1558 + 1G > T | p.Val520Glyfs*3 | 13i | Class 5 | InSIGHT | Brazil | 1 | 9.15 | 0.00 | −100 | |
| c.1559-2A > Cb | p.Leu521Lysfs*34 | 13i | Class 4 | InSIGHT | Chile | 1 | 10.44 | 0.00 | −100 | |
| c.1559-?_1731 +?del | p.Val520Glyfs*7 | 14–15 | Class 5 | 31 | Chile | 1 | nd | nd | nd | |
| c.1639_1643dupTTATA | p.Leu549Tyrfs*44 | 14 | Class 5 | InSIGHT | Brazil | 1 | 6.62 | 6.62 | 0 | |
| c.1681dupT | p.Tyr561Leufs | 11 | Not reported/Class 5 | Current study | Brazil | 1 | 8.17 | 8.17 | 0 | |
| c.1690_1693delCTCA | p.Leu564PhefsTer26 | 15 | Class 5 | InSIGHT | Brazil | 1 | 8.17 | 8.17 | 0 | |
| c.1724G > A | p.Arg575Lys | 15 | Class 3 | 32 | Argentina | 1 | 11.78 | 11.78 | 0 | |
| c.1731 + 3A > Tb | p.(Ser556Argfs*14) | 15i | Class 4 | 20 | Chile | 1 | 11.78 | 5.63 | −52 | |
| c.1732-?_1896 +?del | p.Pro579_Glu633del | 16–17 | Class 5 | InSIGHT | Brazil | 1 | nd | nd | nd | |
| c.1763 T > C | p.Leu588Pro | 16 | Class 3 | InSIGHT | Chile | 1 | 9.34 | 9.34 | 0 | |
| c.1852_1854 delAAGd | p.Lys618del | 16 | Class 5 | InSIGHT | Argentina, El Salvador, Mexico | 6 | 3.51 | 3.51 | 0 | |
| c.1853delAinsTTCTT | p.Lys618Ilefs*4 | 16 | Class 5 | 26 | Brazil | 2 | 3.51 | 3.51 | 0 | |
| c.1855delGd | p.Ala619Leufs*18 | 16 | Class 5 | 12, 36 | Colombia, Puerto Rico | 3 | 3.51 | 3.51 | 0 | |
| c.1863delG | p.Met621Ilefs | 16 | Not reported/Class 5 | Current study | Brazil | 1 | 3.51 | 3.51 | 0 | |
| c.1890dupc | p.Asp631* | 16 | Class 3 | 26 | Argentina | 1 | 3.51 | 3.51 | 0 | |
| c.1897-?_1989 +?del | p.Glu633_Glu663del | 17 | Class 5 | InSIGHT | Brazil | 1 | nd | nd | nd | |
| c.1897-?_2271 +?del | 17–19 | Class 5 | InSIGHT | Brazil | 4 | nd | nd | nd | ||
| c.1918C > T | p.Pro640Ser | 17 | Class 3 | InSIGHT | Colombia | 1 | 6.53 | 6.53 | 0 | |
| c.1975C > T | p.Arg659* | 17 | Class 5 | InSIGHT | Brazil | 2 | 7.70 | 7.70 | 0 | |
| c.1990–93 C > T | 17i | Not reported | Current study | Argentina | 1 | 5.34 | 5.34 | 0 | ||
| c.1998G > A | p.Trp666* | 18 | Class 5 | 11 | Brazil | 1 | 5.34 | 5.34 | 0 | |
| c.2027 T > Cc | p.Leu676Pro | 18 | Class 3 | 26 | Brazil | 1 | 5.34 | 5.34 | 0 | |
| c.2041G > A* | p.Ala681Thr | 18 | Class 5 | UMD | Chile, Brazil, Colombia | 7 | 5.34 | 5.34 | 0 | |
| c.2044_2045del | p.Met682Valfs*11 | 18 | Class 5 | 34, 36 | Puerto Rico | 2 | 5.34 | 5.34 | 0 | |
| c.2059C > T | p.Arg687Trp | 18 | Class 5 | InSIGHT | Brazil | 1 | 8.68 | 8.68 | 0 | |
| c.2093C > G | p.Ser698* | 18 | Class 5 | InSIGHT | El Salvador | 1 | 8.68 | 8.68 | 0 | |
| c.2092_2093delTC | p.Ser698Argfs*5 | 18 | Class 5 | 20 | Chile | 1 | 8.68 | 8.68 | 0 | |
| c.2103 + 1G > C | 18i | Class 4 | InSIGHT | Mexico | 1 | 8.68 | 0.00 | −100 | ||
| c.2104-?_(*193_?)del | p.S702_X757del | 19 | Class 5 | 31 | Chile | 2 | nd | nd | nd | |
| c.2224C > T | p.Gln742* | 19 | Class 5 | 26 | Brazil | 1 | 7.82 | 7.82 | 0 | |
| c.2252_2253dupAA | p.Val752Lysfs*32 | 19 | Class 3 | InSIGHT | Brazil | 1 | 7.82 | 7.82 | 0 | |
| c.2252_2253delAA | p.Lys751Serfs*3 | 19 | Class 5 | InSIGHT | Argentina | 1 | 7.82 | 7.82 | 0 | |
| MSH2 | c. * 32 G > C | 3’UTR | Not reported | Current study | Argentina | 1 | 6.11 | 6.11 | 0 | |
| c.71delA | p.Gln24Argfs*40 | 1 | Class 5 | 32 | Brazil | 1 | 10.07 | 10.07 | 0 | |
| c.96dupC | p.Thr33Hisfs*49 | 1 | Not reported/Class 5 | Current study | Brazil | 1 | 10.07 | 10.07 | 0 | |
| c.112G > T | p.Asp38Tyr | 1 | Not reported | Current study | Chile | 1 | 10.07 | 10.07 | 0 | |
| c.138C > G | p.His46Gln | 1 | Class 3 | InSIGHT | Uruguay | 1 | 10.07 | 10.07 | 0 | |
| c.166G > T | p.Glu56* | 1 | Class 5 | InSIGHT | Argentina | 1 | 10.07 | 10.07 | 0 | |
| c.174dupCd | p.Lys59Glnfs*23 | 1 | Class 5 | 32 | Brazil | 3 | 10.07 | 10.07 | 0 | |
| c.181C > T | p.Gln61* | 1 | Class 5 | 13 | Uruguay | 1 | 10.07 | 10.07 | 0 | |
| c.187delG | p.Val63* | 1 | Class 5 | InSIGHT | Brazil | 1 | 10.07 | 10.07 | 0 | |
| c.(?_-68)_211 +?del | 1 | Class 5 | InSIGHT | Argentina | 1 | nd | nd | nd | ||
| c.(?_-68)_645 +?del | 1–3 | Class 5 | InSIGHT | Puerto Rico | 2 | nd | nd | nd | ||
| c.(?_-68)_1076 +?del | 1–6 | Class 5 | InSIGHT | Argentina | 1 | nd | nd | nd | ||
| c.212-?_366 +?del | p.Ala72Phefs*9 | 2 | Class 5 | InSIGHT | Chile | 1 | nd | nd | nd | |
| c.226C > T | p.Gln76* | 2 | Class 5 | InSIGHT, UMD | Mexico | 1 | 8.51 | 8.51 | 0 | |
| c.229_230delAG | p.Ser77Cysfs*4 | 2 | Class 5 | InSIGHT | Uruguay | 1 | 8.51 | 8.51 | 0 | |
| c.289C > T | p.Gln97* | 2 | Class 5 | InSIGHT | Argentina | 1 | 8.83 | 8.83 | 0 | |
| c.367-168C > T | 2i | Not reported | Current study | Argentina | 2 | 6.25 | 6.25 | 0 | ||
| c.388_389delCA | p.Gln130Valfs*2 | 3 | Class 5 | InSIGHT | Brazil, Argentina | 3 | 6.25 | 6.25 | 0 | |
| c.425C > G | p.Ser142* | 3 | Class 5 | InSIGHT | Guatemala | 1 | 6.25 | 6.25 | 0 | |
| c.435 T > G | p.Ile145Met | 3 | Class 3 | InSIGHT | Argentina | 1 | 6.25 | 6.25 | 0 | |
| c.458C > G | p.Ser153Cys | 3 | Class 3 | 37 | Brazil | 1 | 6.25 | 6.25 | 0 | |
| c.484G > A | p.Gly162Arg | 3 | Class 5 | InSIGHT | Argentina | 1 | 6.25 | 6.25 | 0 | |
| c.518 T > G | p.Leu173Arg | 3 | Class 3 | InSIGHT | Brazil | 1 | 9.88 | 9.88 | 0 | |
| c.528_529delTG | p.Cys176* | 3 | Class 5 | InSIGHT | Brazil | 1 | 9.88 | 9.88 | 0 | |
| c.530_531delAA | p.Glu177Valfs*3 | 3 | Class 5 | 13 | Uruguay | 1 | 9.88 | 9.88 | 0 | |
| c.557A > G | p.Asn186Ser | 3 | Class 3 | UMD | Uruguay | 1 | 9.88 | 9.88 | 0 | |
| c.596delTG | p.Cys199Leufs*15 | 3 | Class 5 | 12 | Colombia | 1 | 9.88 | 9.88 | 0 | |
| c.638dupT | p.Leu213fs | 3 | Not reported | 44 | Mexico | 1 | 9.88 | 9.88 | 0 | |
| c.645 + 1_645 + 10delins15 | 3 | Not reported/Class 5 | Current study | Brazil | 1 | 9.88 | 0.00 | −100 | ||
| c.645 + 791_1076 + 4894del | p.Ile217Glufs*28 | 4–6 | Class 5 | InSIGHT | Brazil | 1 | nd | nd | nd | |
| c.711_727del17 | p.Ile237Metfs*13 | 4 | Not reported/Class 5 | Current study | Brazil | 1 | 7.79 | 7.79 | 0 | |
| c.862C > T | p.Gln288* | 5 | Class 5 | InSIGHT | Brazil | 1 | 10.35 | 10.35 | 0 | |
| c.876_877insC | 5 | Class 5 | Modified from 36 | Puerto Rico | 1 | 8.59 | 8.59 | 0 | ||
| c.897 T > G | p.Tyr299* | 5 | Class 5 | 31 | Chile | 1 | 8.59 | 8.59 | 0 | |
| Amplification of exon 5 | 5 | Class 5 | 37 | Brazil | 1 | nd | nd | nd | ||
| c.905 T > A | p.Leu302* | 5 | Class 5 | InSIGHT | Puerto Rico | 1 | 8.59 | 8.59 | 0 | |
| c.914_923delCAGCAGTCAG | p.Ala305Glufs*23 | 5 | Not reported/Class 5 | Current study | Argentina | 1 | 8.59 | 8.59 | 0 | |
| c.942 + 3A > T | p.Val265_Gln314del | 5i | Class 5 | InSIGHT | Brazil | 2 | 8.59 | 2.54 | −70 | |
| c.943-1G > T | 5i | Class 5 | Modified from 36 | Puerto Rico | 2 | 9.59 | 0 | −100 | ||
| c.1046C > G | p.Pro349Arg | 6 | Class 5 | InSIGHT | Argentina | 1 | 9.81 | 9.81 | 0 | |
| c.1076 + 1_1076 + 2delGT | 6i | Not reported/Class 5 | Current study | Brazil | 1 | 9.81 | 0.00 | −100 | ||
| c.1077-?_1276 +?del | p.Leu360Lysfs*16 | 7 | Class 5 | InSiGHT | Argentina; Uruguay; Brazil | 3 | nd | nd | nd | |
| c.1077-135_1276 + 119dup | 7 | Class 5 | InSiGHT | Brazil | 1 | 8.92 | 8.92 | 0 | ||
| c.1143_1144insA | p.Arg382Thrfs*7 | 7 | Class 5 | 37 | Brazil | 1 | 5.25 | 5.25 | 0 | |
| c.1147C > T | p.Arg382* | 7 | Class 5 | InSIGHT | Brazil | 1 | 5.25 | 5.25 | 0 | |
| c.1165C > T | p.Arg389* | 7 | Class 5 | InSIGHT | Colombia | 1 | 5.25 | 5.25 | 0 | |
| c.1215C > A | p.Tyr405* | 7 | Class 5 | InSIGHT | Chile | 1 | 8.92 | 8.92 | 0 | |
| c.1216C > T | p.Arg406* | 7 | Class 5 | InSIGHT | Uruguay | 1 | 8.92 | 8.92 | 0 | |
| c.1224 T > A | p.Tyr408* | 7 | Not reported/Class 5 | InSIGHT | Argentina | 1 | 8.92 | 8.92 | 0 | |
| c.1226_1227delAG | p.Gln409Argfs*7 | 7 | Class 5 | InSIGHT | Brazil | 1 | 8.92 | 8.92 | 0 | |
| c.1249delG | p.Val417Leufs*21 | 7 | Class 5 | InSIGHT | Brazil | 1 | 8.92 | 8.92 | 0 | |
| c.1255C > T | p.Gln419* | 7 | Class 5 | InSIGHT | Brazil | 1 | 8.92 | 8.92 | 0 | |
| c.1277-?_1386 +?del | p.Lys427Glyfs*4 | 8 | Class 5 | InSiGHT | Brazil | 1 | nd | nd | nd | |
| c.1308dupT | 8 | Class 5 | Modified from 36 | Puerto Rico | 1 | 10.12 | 10.12 | 0 | ||
| c.1444A > T | p.Arg482* | 9 | Class 5 | 26 | Brazil | 2 | 11.59 | 11.59 | 0 | |
| c.1447G > T | p.Glu483* | 9 | Class 5 | InSIGHT | Brazil | 1 | 11.59 | 11.59 | 0 | |
| c.1457_1460del | p.Asn486Thrfsx10 | 9 | Class 5 | InSIGHT | Puerto Rico | 1 | 8.85 | 8.85 | 0 | |
| c.1662-2A > G | 10i | Class 4 | UMD, InSIGHT | Argentina | 1 | 8.01 | 0.00 | −100 | ||
| c.1667delT | p. Leu556* | 11 | Class 5 | 26 | Brazil | 1 | 8.01 | 8.01 | 0 | |
| c.1667_1668insA | p.Thr557Aspfs*5 | 11 | Class 5 | 11 | Brazil | 1 | 8.01 | 8.01 | 0 | |
| c.1705_1706delGA | p.Glu569Ilefs*2 | 11 | Class 5 | InSIGHT | Brazil, Puerto Rico | 2 | 8.01 | 8.01 | 0 | |
| c.1738G > T | p.Glu580* | 11 | Class 5 | InSIGHT | Brazil | 1 | 7.82 | 7.82 | 0 | |
| c.1759 + 1G > A | 11i | Class 4 | InSIGHT | Puerto Rico | 1 | 7.82 | 0.00 | −100 | ||
| c.1759 + 57G > T | 11i | Not reported | Current study | Argentina | 1 | 7.82 | 7.82 | 0 | ||
| c.1777C > T | p.Gln593* | 12 | Class 5 | InSIGHT, UMD | Mexico | 1 | 9.05 | 9.05 | 0 | |
| c.1786_1788delAAT | p.Asn596del | 12 | Class 5 | InSIGHT | Brazil | 1 | 9.05 | 9.05 | 0 | |
| c.1861C > T | p.Arg621* | 12 | Class 5 | InSIGHT, UMD | Argentina, Brazil | 2 | 9.05 | 9.05 | 0 | |
| c.1864C > A | p.Pro622Thr | 12 | Class 3 | 14 | Argentina | 1 | 9.05 | 9.05 | 0 | |
| c.1865C > G | p.Pro622Arg | 12 | Not reported | InSIGHT | Argentina | 1 | 9.05 | 9.05 | 0 | |
| c.1911delCd | p.Arg638Glyfs*47 | 12 | Class 5 | 17 | Argentina | 1 | 4.78 | 4.78 | 0 | |
| c.1967_1970dupACTT | p.Phe657Leufs*3 | 12 | Class 5 | 26 | Brazil | 1 | 4.78 | 4.78 | 0 | |
| c.2038C > T | p.Arg680* | 13 | Class 5 | InSIGHT | Chile | 1 | 8.23 | 8.23 | 0 | |
| c.2046_2047delTG | p.Val684AspfsX14 | 13 | Class 5 | InSIGHT | Argentina | 1 | 8.23 | 8.23 | 0 | |
| c.2078G > A | p.Cys693Tyr | 13 | Not reported | Current study | Brazil | 1 | 8.23 | 8.23 | 0 | |
| c.2131C > T | p.Arg711* | 13 | Class 5 | InSIGHT | Argentina, Brazil, Chile | 4 | 10.86 | 10.86 | 0 | |
| c.2145del | p.Asp716Thrfs*4 | 13 | Class 5 | 37 | Brazil | 1 | 10.86 | 10.86 | 0 | |
| c.2152C > T | p.Gln718* | 13 | Class 5 | InSIGHT | Brazil | 9 | 10.86 | 10.86 | 0 | |
| c.2178_2179insA | 13 | Class 5 | Modified from 51 | Mexico | 1 | 10.86 | 10.86 | 0 | ||
| c.2185_2192del7insCCCT | p.M729_E731delinsP729_X730 | 13 | Class 5 | 20 | Chile | 1 | 10.86 | 10.86 | 0 | |
| c.2187G > T | p.Met729Ile | 13 | Class 3 | 26 | Brazil | 1 | 10.86 | 10.86 | 0 | |
| c.2211-?_2458 +?del | p.Ser738Cysfs*3 | 14 | Class 5 | InSIGHT | Brazil | 1 | nd | nd | nd | |
| c.2525_2526delAG | p.Glu842Valfs*3 | 15 | Class 5 | 26 | Brazil | 2 | 9.97 | 9.97 | 0 | |
| c.2785C > T | p.Arg929* | 16 | Class 5 | 26 | Brazil, Uruguay | 2 | 6.11 | 6.11 | 0 | |
| EPCAM-MSH2 | EPCAM-MSH2 (exon1–4) deletion | 1–4 | Class 5 | 37 | Brazil | 1 | nd | nd | nd | |
| c.583C > G | p.Leu195Val | 6 | Not reported | Current study | Uruguay | 1 | nd | nd | nd | |
| c.555 + 402_*1220del | 6–9 | Not reported/Class 5 | LOVD | Chile | 1 | nd | nd | nd | ||
| EPCAM:c.(?_1)_(945_?)_MSH2:c.(?_1)_(1076_?) | 1–6 | Class 5 | 31 | Chile | 1 | nd | nd | nd | ||
| MSH6 | c.23_26delACAG | p.Tyr8SerfsTer8 | 1 | Not reported/Class 5 | Current study | Brazil | 1 | 7.38 | 7.38 | 0 |
| c.44C > T | p.Pro15Leu | 1 | Class 3 | ClinVar | Uruguay | 1 | 7.38 | 7.38 | 0 | |
| c.124C > T | p.Pro42Leu | 1 | Class 3 | 37 | Brazil | 1 | 7.38 | 7.38 | 0 | |
| c.457 + 32del | 2i | Not reported | Current study | Argentina | 1 | 10.77 | 10.77 | 0 | ||
| c.458-?_3172del | p.Gly153_Leu1057del | 3–4 | Class 5 | 32 | Uruguay | 1 | nd | nd | nd | |
| c.663A > C | p.Glu221Asp | 4 | Class 3 | InSIGHT | Uruguay; Argentina | 2 | 10.87 | 10.87 | 0 | |
| c.733A > T* | p.Ile245Leu | 4 | Conflicting interpretations of pathogenicity | UMD, Insight | Uruguay | 1 | 10.87 | 10.87 | 0 | |
| c.1133_1134delGA | p.Arg378Lysfs*3 | 4 | Not reported/Class 5 | Current study | Brazil | 1 | 10.87 | 10.87 | 0 | |
| c.1338A > T | p.Glu446Asp | 4 | Class 3 | 37 | Brazil | 1 | 10.87 | 10.87 | 0 | |
| c.1483C > T | p.Arg495* | 4 | Class 5 | InSIGHT | Brazil | 1 | 10.87 | 10.87 | 0 | |
| c.1519dupA | p.Arg507Lysfs*9 | 4 | Class 5 | UMD | Brazil | 2 | 10.87 | 10.87 | 0 | |
| c.1591C > A | p.Pro531Thr | 4 | Class 3 | UMD, ClinVAr | Uruguay | 1 | 10.87 | 10.87 | 0 | |
| c.1913delInsAGA | p.Leu638GlnfsX11 | 4 | Not reported/Class 5 | Current study | Brazil | 1 | 8.91 | 8.91 | 0 | |
| c.1932G > C | p.Arg644Ser | 4 | Class 3 | 37 | Brazil | 1 | 8.91 | 8.91 | 0 | |
| c.2194C > T | p.Arg732* | 4 | Class 5 | InSIGHT | Brazil | 1 | 8.91 | 8.91 | 0 | |
| c.2308_2312delinsT | p.Gly770Cysfs*4 | 4 | Class 5 | UMD | Uruguay | 1 | 8.91 | 8.91 | 0 | |
| c.2332_2335dupCTTT | p.Cys779Serfs | 4 | Not reported/Class 5 | Current study | Brazil | 1 | 8.91 | 8.91 | 0 | |
| c.2379_2380delTG | p.Ala794Hisfs*9 | 4 | Class 5 | 37 | Brazil | 1 | nd | nd | nd | |
| c.2659delC | p.Lys888Serfs*18 | 4 | Not reported/Class 5 | Current study | Brazil | 1 | 8.91 | 8.91 | 0 | |
| c.2983G > T | p.Glu995* | 4 | Class 5 | InSIGHT | Brazil | 1 | 8.91 | 8.91 | 0 | |
| c.3023C > T | p.Thr1008Ile | 4 | Not reported | Current study | Argentina | 1 | 8.91 | 8.91 | 0 | |
| c.3119_3120delTT | p.Phe1040* | 4 | Class 5 | InSIGHT | Puerto Rico | 1 | 8.91 | 8.91 | 0 | |
| c.3487G > T | p.Glu1163* | 6 | Class 5 | 37 | Brazil | 1 | 10.55 | 10.55 | 0 | |
| c.3557-144G > A | 6i | Not reported | Current study | Argentina | 8 | 10.29 | 10.29 | 0 | ||
| c.3557-185C > T | 6i | Not reported | Current study | Argentina | 1 | 10.29 | 10.29 | 0 | ||
| c.3632 T > C | p.Leu1211Pro | 7 | Class 5 | InSIGHT | Brazil | 1 | 9.14 | 9.14 | 0 | |
| c.3646 + 91 T > C | 6 | Not reported | Current study | Argentina | 1 | nd | nd | nd | ||
| c.3772C > G | p.Gln1258Glu | 8 | Not reported | Current study | Brazil | 1 | 8.35 | 8.35 | 0 | |
| c.3974_3976delAGA | p.K1325del | 9 | Class 3 | 37 | Brazil | 1 | 6.25 | 6.25 | 0 | |
| c.4071ins4 | 10 | Class 3 | 51 | Mexico | 1 | nd | nd | nd | ||
| PMS2 | c.23 + 72C > T | 1i | Class 3 | InSIGHT | Argentina | 5 | 8.70 | 8.70 | 0 | |
| c.537 + 187A > G | 5i | Not reported | Current study | Argentina | 4 | 8.04 | 8.04 | 0 | ||
| c.697C > T | p.Gln233* | 6 | Class 5 | InSIGHT | Brazil | 1 | 6.13 | 6.13 | 0 | |
| c.804-1G > T | 8i | Not reported/Class 5 | Current study | Colombia | 1 | 3.54 | 0.00 | −100 | ||
| c.903 + 84 C > T | 8i | Not reported | Current study | Argentina | 1 | 7.64 | 7.64 | 0 | ||
| c.903 + 100 T > G | 8i | Not reported | Current study | Argentina | 1 | 7.64 | 7.64 | 0 | ||
| c.903 + 144G > T | 8i | Not reported | Current study | Argentina | 4 | 7.64 | 7.64 | 0 | ||
| c.1004A > G | p.Asn335Ser | 10 | Class 3 | ClinVar | Uruguay | 1 | 10.00 | 10.00 | 0 | |
| c.1144G > C | p.Gly382Arg | 10 | Class 3 | 37 | Brazil | 1 | 10.57 | 7.69 | −27 | |
| c.1211C > G | p.Pro404Arg | 11 | Class 3 | 37 | Brazil | 1 | 7.77 | 7.77 | 0 | |
| c.1239dup | p.Asp414Argfs*44 | 11 | Class 5 | 37 | Brazil | 1 | 7.77 | 7.77 | 0 | |
| c.1437C > G | p.His479Gln | 11 | Class 3 | InSIGHT | Argentina | 1 | 7.77 | 7.77 | 0 | |
| c.1831dupA | p.Ile611Asnfs*2 | 11 | Class 5 | InSIGHT | Argentina | 1 | 9.06 | 9.06 | 0 | |
| c.2016delG | p.Met672Ilefs*16 | 12 | Class 5 | 31 | Chile | 1 | 8.61 | 8.61 | 0 | |
| c.2036 T > C | p.Ile679Thr | 12 | Class 3 | 37 | Brazil | 1 | nd | nd | nd | |
| c.2182_2184delinsG | p.Thr728Alafs*7 | 13 | Class 5 | HGMD | Brazil | 2 | nd | nd | nd | |
| c.2192_2196delTAACT | p.Leu731Cysfs*3 | 13 | Class 5 | InSIGHT | Brazil | 1 | 10.75 | 10.75 | 0 | |
| c.2264 T > C | p.Ile755Thr | 13 | Class 3 | 37 | Brazil | 1 | nd | nd | nd | |
| c.2276-?_2445 +?del | p.Ala759Glyfs*8 | 14 | Class 5 | InSIGHT | Chile | 1 | nd | nd | nd | |
LS: Lynch syndrome; Novel MMR variants are represented in bold; a: reported as Class 2 by UMD but not assessed by the InSIGHT; b: MMR variant downgraded from Class 5 to Class 4; c: MMR variant downgraded from Class 5 to Class 3; d: MMR variant updated in the nomenclature; nd: not determined