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LOVD - Variant listings for MLH1

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InSiGHT Classification Hide InSiGHT Classification column Descending
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Segregation LR Hide Segregation LR column Descending
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1 c.2T>A p.? 0.912 0.9 Class 5: Pathogenic Class 5: Pathogenic 6.96 1.9 13.224 0.9917 Thompson et al., 2014, InSiGHT MLH1_00100 -
1 c.55A>T p.(ile19Phe) 0.604 0.604 Class 3: Uncertain Class 3: Uncertain - 3.846 3.846 0.8543 Thompson et al., 2014, InSiGHT MLH1_00120 -
1 c.62C>A p.(Ala21Glu) 0.964 0.9 Class 5: Pathogenic Class 5: Pathogenic 48.442 3.662 177.378 0.9994 Thompson et al., 2014, InSiGHT MLH1_00125 -
1 c.62C>T p.(Ala21Val) 0.959 0.9 Class 5: Pathogenic Class 5: Pathogenic - 54.802 54.802 0.998 InSiGHT MLH1_00126 -
1 c.65G>C p.(Gly22Ala) 0.888 0.888 Class 3: Uncertain Class 3: Uncertain 0.1 - 0.1 0.4419 Thompson et al., 2014, InSiGHT MLH1_00128 -
1 c.73A>T p.(ile25Phe) 0.606 0.606 Class 4: Likely pathogenic Class 4: Likely pathogenic 6.96 1.935 13.469 0.9539 Thompson et al., 2014, InSiGHT MLH1_00137 -
1 c.83C>T p.(Pro28Leu) 0.927 0.9 Class 5: Pathogenic Class 5: Pathogenic 48.442 - 48.442 0.9977 Thompson et al., 2014, InSiGHT MLH1_00147 -
1 c.91_92delinsTG p.Ala31Cys - 0.9 Class 3: Uncertain Class 3: Uncertain 0.1 0.95 0.095 0.4608 Thompson et al., 2014, InSiGHT MLH1_00152 -
1 c.104T>G p.(Met35Arg) 0.938 0.9 Class 5: Pathogenic Class 5: Pathogenic 101.994 3.757 383.161 0.9997 Thompson et al., 2014, InSiGHT MLH1_00006 -
1 c.104_105delinsAC p.(Met35Asn) - 0.731 Class 5: Pathogenic Class 5: Pathogenic 11.778 3.618 42.614 0.9914 Thompson et al., 2014, InSiGHT MLH1_00004 -
1 c.112A>C p.Asn38His 0.75 0.75 Class 5: Pathogenic Class 5: Pathogenic 3.73E+08 1871.3 6.97E+11 1 Thompson et al., 2013 MLH1_00007 -
1 c.113A>G p.(Asn38Ser) 0.721 0.721 Class 5: Pathogenic Class 5: Pathogenic 6.96 27.47 191.2 0.998 Thompson et al., 2013 MLH1_00008 -
1 c.114C>G p.(Asn38Lys) 0.916 0.9 Class 5: Pathogenic Class 5: Pathogenic 8.66 95.179 824.254 0.9999 Thompson et al., 2014, InSiGHT MLH1_00009 -
1 c.115T>C p.(Cys39Arg) 0.953815 0.9 Class 3: Uncertain Class 3: Uncertain - 1.9548 1.9548 0.94621689 InSiGHT MLH1_00160 -
1i c.116+5G>C p.Cys39Trpfs*11 - 0.26 Class 5: Pathogenic Class 5: Pathogenic 75 21.68 1625.9 0.998 Thompson et al., 2013 MLH1_00012 -
2 c.121G>C p.Asp41His 0.869 0.869 Class 5: Pathogenic Class 5: Pathogenic 4520.25 3252.63 1.47E+07 0.99999999 Pineda et al., 2014, InSiGHT MLH1_00014 -
2 c.131C>T p.(Ser44Phe) 0.816 0.816 Class 5: Pathogenic Class 5: Pathogenic 5624.34 1654.528 9.31E+06 1 Thompson et al., 2014, InSiGHT MLH1_00016 -
2 c.143A>C p.(Gln48Pro) 0.652 0.652 Class 4: Likely pathogenic Class 4: Likely pathogenic - 12.614 12.614 0.9594 Thompson et al., 2014, InSiGHT MLH1_00018 -
2 c.146T>A p.Val49Glu 0.941 0.9 Class 5: Pathogenic Class 5: Pathogenic 74.996 - 74.996 0.9985 Thompson et al., 2014, InSiGHT MLH1_00019 -
2 c.187G>A p.(Asp63Asn) 0.74 0.74 Class 3: Uncertain Class 3: Uncertain - 1.935 1.935 0.8463 Thompson et al., 2014, InSiGHT MLH1_00044 -
2 c.189C>A p.(Asp63Glu) 0.907 0.9 Class 5: Pathogenic Class 5: Pathogenic 6.96 3.317 23.086 0.9952 Thompson et al., 2014, InSiGHT MLH1_00046 -
2 c.191A>G p.(Asn64Ser) 0.718 0.718 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.66 2.423 20.981 0.9816 Thompson et al., 2014, InSiGHT MLH1_00048 -
2 c.194G>A p.(Gly65Asp) 0.96 0.9 Class 4: Likely pathogenic Class 4: Likely pathogenic 6.96 - 6.96 0.9843 Thompson et al., 2014, InSiGHT MLH1_00052 -
2 c.198C>T p.= - 0.1 Class 3: Uncertain Class 2: Likely not pathogenic - 0.69 0.69 0.071 Thompson et al., 2013 MLH1_00060 -
2 c.199G>A p.Gly67Arg 0.962 0.9 Class 5: Pathogenic Class 5: Pathogenic 2210.3 2.148 4747.2 1 Thompson et al., 2013 MLH1_00063 -
2 c.199G>T p.Gly67Trp 0.893 0.893 Class 5: Pathogenic Class 5: Pathogenic - 13.173 13.173 0.9909 Thompson et al., 2014, InSiGHT MLH1_00064 -
2 c.200G>A p.Gly67Glu 0.959 0.9 Class 5: Pathogenic Class 5: Pathogenic 6.96 7.483 52.08 0.9979 Thompson et al., 2014, InSiGHT MLH1_00065 -
2 c.203T>A p.(ile68Asn) 0.834 0.834 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.66 1.935 16.758 0.9883 Thompson et al., 2014, InSiGHT MLH1_00067 -
2i c.208-3C>G p.(Lys70_Glu102del) - 0.26 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.66 7.49 64.863 0.958 Thompson et al., 2014, InSiGHT MLH1_00073 -
2i c.208-2A>G p.? - 0.96 Class 5: Pathogenic Class 5: Pathogenic 6.96 - 6.96 0.994 Thompson et al., 2014, InSiGHT MLH1_00072 -
2i c.208-1G>A p.? - 0.96 Class 5: Pathogenic Class 5: Pathogenic 6.96 6.223 43.309 0.999 Thompson et al., 2014, InSiGHT MLH1_00071 -
3 c.218T>C p.Leu73Pro 0.958 0.9 Class 3: Uncertain Class 3: Uncertain - 1.521 1.521 0.9319 Thompson et al., 2014, InSiGHT MLH1_00084 -
3 c.229T>C p.Cys77Arg 0.958 0.9 Class 5: Pathogenic Class 5: Pathogenic 8.66 5.632 48.776 0.9977 Thompson et al., 2014, InSiGHT MLH1_00092 -
3 c.230G>A p.Cys77Tyr 0.88 0.88 Class 5: Pathogenic Class 5: Pathogenic 11.78 3.161 37.23 0.996 Thompson et al., 2013 MLH1_00093 -
3 c.238T>G p.(Phe80Val) 0.827 0.827 Class 5: Pathogenic Class 5: Pathogenic 8.66 2.71 23.469 0.9912 Thompson et al., 2014, InSiGHT MLH1_00094 -
3 c.244A>G p.Thr82Ala 0.965 0.9 Class 5: Pathogenic Class 5: Pathogenic 15.93 1.41 22.47 0.99508 InSiGHT MLH1_00095 -
3 c.245C>T p.(Thr82ile) 0.954 0.9 Class 5: Pathogenic Class 5: Pathogenic - 13.833 13.833 0.992 Thompson et al., 2014, InSiGHT MLH1_00096 -
3 c.250A>G p.Lys84Glu 0.904 0.9 Class 3: Uncertain Class 4: Likely pathogenic 1.84 - 1.84 0.9431 Thompson et al., 2014, InSiGHT MLH1_00097 -
3 c.277A>G p.(Ser93Gly) 0.014 0.1 Class 3: Uncertain Class 3: Uncertain 7.5 - 7.5 0.4545 Thompson et al., 2014, InSiGHT MLH1_00098 -
3 c.293_304del p.Gly98_Gly101del 0.9 0.9 Class 4: Likely pathogenic Class 4: Likely pathogenic - 3.763 3.763 0.9713 Thompson et al., 2014, InSiGHT MLH1_00099 -
3 c.301G>A p.(Gly101Ser) 0.409 0.409 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.66 3.745 3.745 0.957 InSiGHT MLH1_00101 -
3 c.303T>G p.= - 0.1 Class 3: Uncertain Class 2: Likely not pathogenic - 0.531 0.531 0.056 Thompson et al., 2013 MLH1_00102 -
3i c.307-29C>A p.= - 0.26 Class 1: Not pathogenic Class 1: Not pathogenic 4.10E-12 4.08E-04 1.67E-15 5.88E-16 Thompson et al., 2013 MLH1_00103 -
4 c.320T>G p.ile107Arg 0.947 0.9 Class 5: Pathogenic Class 5: Pathogenic - 23.289 23.289 0.9953 Thompson et al., 2014, InSiGHT MLH1_00104 -
4 c.332C>T p.Ala111Val 0.958 0.9 Class 4: Likely pathogenic Class 4: Likely pathogenic - 3.745 3.745 0.9712 Thompson et al., 2014, InSiGHT MLH1_00105 -
4 c.346A>C p.(Thr116Pro) 0.819491 0.820 Class 5: Pathogenic Class 5: Pathogenic - 112.49 112.49 0.99805 InSiGHT MLH1_00161 -
4 c.350C>T p.Thr117Met 0.893 0.893 Class 5: Pathogenic Class 5: Pathogenic 1.53E+11 1.04E+06 1.60E+17 1 Thompson et al., 2013 MLH1_00106 -
4i c.380+2T>A p.? - 0.96 Class 5: Pathogenic Class 5: Pathogenic 6.96 3.861 26.875 0.9985 Thompson et al., 2014, InSiGHT MLH1_00107 -
4i c.380+65A>C p.(=) - 0.26 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.04 - 0.04 0.0139 InSiGHT MLH1_00165 -
4i c.381-2A>G p.(Arg127_Ala128del) - 0.96 Class 4: Likely pathogenic Class 4: Likely pathogenic - 3.744 3.744 0.989 Thompson et al., 2014, InSiGHT MLH1_00108 -
5'UTR c.-269C>G p.= - 0.26 Class 3: Uncertain Class 2: Likely not pathogenic - 0.321 0.321 0.1012 Thompson et al., 2014, InSiGHT MLH1_00002 -
5'UTR c.-107C>G p.(=) - 0.26 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.01 - 0.01 0.0035 Thompson et al., 2014, InSiGHT MLH1_00001 -
5'UTR c.-42C>T p.(=) - 0.26 Class 3: Uncertain Class 3: Uncertain 6.027 0.405 2.441 0.4617 Thompson et al., 2014, InSiGHT MLH1_00003 -
5 c.382G>C p.(Ala128Pro) 0.841 0.841 Class 5: Pathogenic Class 5: Pathogenic - 96.305 96.305 0.998 Thompson et al., 2014, InSiGHT MLH1_00109 -
5 c.389A>G p.(Tyr130Cys) 0.755 0.755 Class 3: Uncertain Class 3: Uncertain 1.36 1.178 1.602 0.833 Thompson et al., 2014, InSiGHT MLH1_00110 -
5 c.394G>C p.(Asp132His) 0.868 0.868 Class 1: Not pathogenic Class 1: Not pathogenic 4.84E-08 - 4.84E-08 3.19E-07 Thompson et al., 2014, InSiGHT MLH1_00111 -
5i c.453+2T>C p.? - 0.96 Class 5: Pathogenic Class 5: Pathogenic 6.96 - 6.96 0.994 Thompson et al., 2014, InSiGHT MLH1_00113 -
5i c.453+25A>G p.(=) - 0.26 Class 1: Not pathogenic Class 1: Not pathogenic 0.001 0.663 0.001 0.0003 Thompson et al., 2014, InSiGHT MLH1_00112 -
6 c.464T>G p.Leu155Arg 0.952 0.9 Class 5: Pathogenic Class 5: Pathogenic 6.96 3.65 25.405 0.9956 Thompson et al., 2014, InSiGHT MLH1_00114 -
6 c.474C>T p.(=) 0.1 0.1 Class 2: Likely not pathogenic Class 1: Not pathogenic - 0.052 0.052 0.0058 Thompson et al., 2014, InSiGHT MLH1_00115 -
6 c.498A>C p.(Leu166Phe) 0.019 0.1 Class 3: Uncertain Class 3: Uncertain 6.96 - 6.96 0.4361 Thompson et al., 2014, InSiGHT MLH1_00116 -
6i c.545+43C>G p.(=) - 0.26 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.08 0.955 0.076 0.0262 Thompson et al., 2014, InSiGHT MLH1_00117 -
6i c.546-2A>C p.(Arg182Serfs*6) - 0.96 Class 5: Pathogenic Class 5: Pathogenic 6.96 - 6.96 0.994 Thompson et al., 2014, InSiGHT MLH1_00118 -
7 c.554T>G p.Val185Gly 0.313 0.313 Class 5: Pathogenic Class 5: Pathogenic 6.96 95.548 665.013 0.9967 Thompson et al., 2014, InSiGHT MLH1_00119 -
7 c.572G>T p.(Ser191ile) 0.033 0.1 Class 3: Uncertain Class 3: Uncertain 6.96 - 6.96 0.4361 Thompson et al., 2014, InSiGHT MLH1_00121 -
7 c.577T>C p.(Ser193Pro) 0.707 0.707 Class 3: Uncertain Class 3: Uncertain - 3.648 3.648 0.898 Thompson et al., 2014, InSiGHT MLH1_00122 -
7i c.588+1G>T p.(Arg182Serfs*6) - 0.96 Class 5: Pathogenic Class 5: Pathogenic 883.3 3.706 3273.4 1 Thompson et al., 2013 MLH1_00123 -
7i c.589-2A>G p.Gln197Glufs*4 - 0.96 Class 5: Pathogenic Class 5: Pathogenic - 25.11 25.11 0.998 Thompson et al., 2013 MLH1_00124 -
8 c.637G>A p.(Val213Met) 0.01 0.1 Class 1: Not pathogenic Class 1: Not pathogenic 0.04 0.052 0.002 0.0002 Thompson et al., 2014, InSiGHT MLH1_00127 -
8i c.677+1del p.? - 0.96 Class 5: Pathogenic Class 5: Pathogenic 8.66 - 8.66 0.9952 Thompson et al., 2014, InSiGHT MLH1_00129 -
8i c.678-3T>A p.? - 0.26 Class 3: Uncertain Class 3: Uncertain - 14.084 14.084 0.8319 Thompson et al., 2014, InSiGHT MLH1_00133 -
8i c.678-3_678-2del p.(Glu227_Ser295del) - 0.96 Class 5: Pathogenic Class 5: Pathogenic 6.96 1.941 13.511 0.9969 Thompson et al., 2014, InSiGHT MLH1_00132 -
8i c.678-1G>C p.(Glu227Thrfs*7) - 0.96 Class 5: Pathogenic Class 5: Pathogenic - 57.645 57.645 0.9993 Thompson et al., 2014, InSiGHT MLH1_00131 -
9 c.702G>A p.= - 0.1 Class 3: Uncertain Class 2: Likely not pathogenic - 0.949 0.949 0.095 Thompson et al., 2013 MLH1_00134 -
9 c.731G>A p.Gly244Asp 0.959 0.9 Class 5: Pathogenic Class 5: Pathogenic 6.96 2.081 14.486 0.9924 Thompson et al., 2014, InSiGHT MLH1_00135 -
9 c.739T>C p.Ser247Pro 0.894 0.894 Class 5: Pathogenic Class 5: Pathogenic 8.66 3.088 26.744 0.9956 Thompson et al., 2014, InSiGHT MLH1_00136 -
9 c.779T>G p.Leu260Arg 0.952 0.9 Class 5: Pathogenic Class 5: Pathogenic 649.462 - 649.462 0.9998 Thompson et al., 2014, InSiGHT MLH1_00138 -
9i c.790+1del p.? - 0.96 Class 5: Pathogenic Class 5: Pathogenic - 14.113 14.113 0.9971 Thompson et al., 2014, InSiGHT MLH1_00140 -
9i c.790+2dup p.Glu227_Ser295del - 0.96 Class 5: Pathogenic Class 5: Pathogenic 6.96 312.8 2176.7 1 Thompson et al., 2013 MLH1_00141 -
9i c.790+4A>G p.([Glu227_Ser295del, Glu227Serfs*42]) - 0.26 Class 3: Uncertain Class 3: Uncertain 6.96 1.892 13.168 0.8223 Thompson et al., 2014, InSiGHT MLH1_00142 -
9i c.790+10A>G p.= - 0.26 Class 1: Not pathogenic Class 1: Not pathogenic 4.00E-04 - 4.00E-04 0.0001 Thompson et al., 2013 MLH1_00139 -
9i c.791-7T>A p.(His264Leufs*2) - 0.26 Class 3: Uncertain Class 4: Likely pathogenic 1.84 2.922 5.376 0.6539 Thompson et al., 2014, InSiGHT MLH1_00144 -
9i c.791-1G>C p.(His264Leufs*2) - 0.96 Class 5: Pathogenic Class 5: Pathogenic 8.66 122.2 1057.8 1 Thompson et al., 2013 MLH1_00143 -
10 c.793C>A p.(Arg265Ser) 0.884 0.884 Class 4: Likely pathogenic Class 4: Likely pathogenic - 3.598 3.598 0.9647 Thompson et al., 2014, InSiGHT MLH1_00145 -
10 c.803A>G p.(Glu268Gly) 0.709 0.709 Class 1: Not pathogenic Class 1: Not pathogenic 4.00E-04 0.092 3.69E-05 0.0001 Thompson et al., 2014, InSiGHT MLH1_00146 -
10 c.845C>G p.(Ala282Gly) 0.025 0.1 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.1 - 0.1 0.011 Thompson et al., 2014, InSiGHT MLH1_00148 -
10 c.884G>A p.His264Leufs*2 0.723 0.723 Class 4: Likely pathogenic Class 5: Pathogenic 11.78 2.43 28.62 0.987 Thompson et al., 2013 MLH1_00150 -
10i c.884+2T>C p.? - 0.96 Class 4: Likely pathogenic Class 4: Likely pathogenic - 3.763 3.763 0.989 Thompson et al., 2014, InSiGHT MLH1_00149 -
11 c.908T>A p.(Val303Glu) 0.933 0.9 Class 3: Uncertain Class 3: Uncertain - 1.9 1.9 0.9448 Thompson et al., 2014, InSiGHT MLH1_00151 -
11 c.911A>T p.Asp304Val 0.891 0.891 Class 5: Pathogenic Class 5: Pathogenic 8.66 6.146 6.146 0.99771 InSiGHT MLH1_00153 -
11 c.918T>A p.(Asn306Lys) 0.916 0.9 Class 5: Pathogenic Class 5: Pathogenic 6.96 105.29 732.82 0.9998 InSiGHT MLH1_00154 -
11 c.925C>T p.(Pro309Ser) 0.826 0.826 Class 3: Uncertain Class 3: Uncertain 0.1 - 0.1 0.3218 Thompson et al., 2014, InSiGHT MLH1_00155 -
11 c.949C>A p.(Leu317Met) 0.606 0.606 Class 3: Uncertain Class 3: Uncertain 6.96 - 6.96 0.9145 Thompson et al., 2014, InSiGHT MLH1_00156 -
11 c.974G>A p.Arg325Gln 0.003 0.1 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.018 0.843 0.016 0.0017 Thompson et al., 2014, InSiGHT MLH1_00157 -
11 c.977T>C p.Val326Ala 0.211 0.211 Class 1: Not pathogenic Class 1: Not pathogenic 2.56E-06 0.805 2.06E-06 5.51E-07 Thompson et al., 2014, InSiGHT MLH1_00158 -
11 c.988_990del p.[Ser295Argfs*21, ile330del] 0.412 0.412 Class 3: Uncertain Class 3: Uncertain - 4.164 4.164 0.7447 Thompson et al., 2014, InSiGHT MLH1_00159 -
12 c.1040C>A p.(Thr347Asn) 0.007 0.1 Class 1: Not pathogenic Class 1: Not pathogenic - 0.002 0.002 0.0002 Thompson et al., 2013 MLH1_00005 -
12 c.1151T>A p.Val384Asp 0.952 0.9 Class 3: Uncertain Class 1: Not pathogenic 0.014 - 0.014 0.1109 Thompson et al., 2014, InSiGHT MLH1_00010 -
12 c.1153C>T p.(Arg385Cys) 0.937 0.9 Class 4: Likely pathogenic Class 4: Likely pathogenic - 10.373 10.373 0.9894 Thompson et al., 2014, InSiGHT MLH1_00011 -
12 c.1217G>A p.(Ser406Asn) 0.001 0.1 Class 1: Not pathogenic Class 1: Not pathogenic 0.649 1.59E-09 1.03E-09 1.15E-10 Thompson et al., 2014, InSiGHT MLH1_00013 -
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Note: Direct classification on the basis of the prior probability alone is a misuse of the Bayesian integrated evaluation model, therefore the dynamic range of the prior probability (Prior P) has been truncated to a minimum of 0.10 and a maximum of 0.90 so that additional sources of information are required to reach posterior probabilities that alter clinical management of patients with variants.

Legend: [ MLH1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Protein: Variation at protein level. MAPP/PP2 Prior P: MAPP/PP2 Prior probability of pathogenicity Prior P: Prior probability of pathogenicity (used in Bayes Integrated Evaluation/Multifactorial Likelihood Analysis) IARC Classification: 5-tiered classification based on Posterior Probability InSiGHT Classification: 5-tiered classification on the InSiGHT database Tumour Char LR: Tumour characteristics likelihood ratio Segregation LR: Segregation likelihood ratio Odds for causality: Product of LRs Posterior P: Posterior probability of pathogenicity Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. MLH1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks

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