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Table 3 Spectrum of MMR variants in Latin America LS families

From: A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

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
  1. 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
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