View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
Batch queries can be done using pipe "|" as a separator between search terms.
LOVD - Variant listings for MSH2

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

105 public entries
entries per page

Path. Hide Path. column Descending
Ascending
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
Ascending
Prior P Hide Prior P column Descending
Ascending
IARC Classification Hide IARC Classification column Descending
Ascending
InSiGHT Classification Hide InSiGHT Classification column Descending
Ascending
Tumour Char LR Hide Tumour Char LR column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Odds for causality Hide Odds for causality column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Variant remarks Hide Variant remarks column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
Disease Hide Disease column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
-?/-? 1 c.6G>T r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 0.696 0.070 0.0077 Thompson et al., 2013 - DNA SEQ - - -
-/- 1 c.23C>T r.23c>u p.Thr8Met 0.001 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.001 0.113 1.13E-04 1.26E-05 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 1 c.138C>G r.(?) p.(His46Gln) 0.740 0.740 Class 3: Uncertain Class 3: Uncertain 0.100 - 0.100 0.2216 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 1i c.212-1G>A r.spl? p.? - 0.960 Class 5: Pathogenic Class 5: Pathogenic 8.660 1.750 15.158 0.9973 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+?/+? 2 c.277C>T r.(?) p.(Leu93Phe) 0.691 0.691 Class 4: Likely pathogenic Class 4: Likely pathogenic 6.960 1.843 12.828 0.9663 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-/- 2 c.279_281del r.279_281del p.Leu94del - 0.604 Class 1: Not pathogenic Class 1: Not pathogenic 0.010 0.065 0.001 0.0010 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 2 c.287G>A r.(?) p.(Arg96His) 0.079 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.059 0.059 0.0065 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+?/+? 2 c.301_306del r.(?) p.(Glu101_Val102del) - 0.703 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.660 - 8.660 0.9535 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-/- 2 c.317G>A r.(?) p.(Arg106Lys) 1.74E-04 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.100 0.065 0.006 0.0007 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-/- 2 c.339G>A r.339g>a p.= - 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.004 0.119 4.75E-04 0.0001 Thompson et al., 2013 - DNA SEQ - - -
-/- 2 c.965G>A r.965g>a p.Gly322Asp 0.003 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 4.45E-13 1.023 4.56E-13 5.06E-14 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 3 c.304G>A r.[302_306del, 304g>a] p.[Glu101Valfs*14, Glu102Lys] 0.013 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.040 - 0.040 0.0044 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 3 c.380A>T r.(?) p.(Asn127Ile) 0.844 0.844 Class 3: Uncertain Class 3: Uncertain - 0.294 0.294 0.6141 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 3 c.435T>G r.(=) p.(Ile145Met) 0.005 0.100 Class 3: Uncertain Class 3: Uncertain 8.660 0.972 8.419 0.4833 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 3 c.484G>A r.484g>a p.Gly162Arg 0.962 0.900 Class 5: Pathogenic Class 5: Pathogenic 8.660 2.663 23.061 0.9952 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 3 c.488T>A r.(?) p.(Val163Asp) 0.963 0.900 Class 5: Pathogenic Class 5: Pathogenic 74.996 - 74.996 0.9985 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 3 c.488T>G r.(?) p.(Val163Gly) 0.422 0.422 Class 5: Pathogenic Class 5: Pathogenic 0.606 8376.7 5072.3 0.9997 InSiGHT - DNA SEQ - - -
+/+ 3 c.490G>A r.(?) p.(Gly164Arg) 0.952 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 3.940 27.419 0.9960 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+?/+? 3 c.493T>G r.(?) p.(Tyr165Asp) 0.182 0.182 Class 4: Likely pathogenic Class 4: Likely pathogenic 75.00 1.935 145.12 0.9699 InSiGHT - DNA SEQ - - -
?/? 3 c.499G>C r.(?) p.(Asp167His) 0.869 0.869 Class 3: Uncertain Class 3: Uncertain 0.040 - 0.040 0.2090 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 3 c.505A>G r.(?) p.(Ile169Val) 0.002 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.866 0.068 0.059 0.0065 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 3 c.560T>C r.(?) p.(Leu187Pro) 0.960 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 12.441 86.588 0.9987 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 3 c.560T>G r.560u>g p.Leu187Arg 0.952 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 3.514 24.460 0.9955 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 3 c.561_569del r.(?) p.(Glu188_Leu190del) - 0.900 Class 5: Pathogenic Class 5: Pathogenic - 86.723 86.723 0.9987 InSiGHT - DNA SEQ - - -
+/+ 3 c.571_573del r.(?) p.(Leu191del) - 0.500 Class 5: Pathogenic Class 5: Pathogenic 11.780 19.810 233.300 0.9957 Thompson et al., 2013 - DNA SEQ - - -
-/- 3 c.593A>G r.593a>g p.Glu198Gly 0.934 0.900 Class 1: Not pathogenic Class 1: Not pathogenic 6.40E-05 0.818 5.24E-05 0.0005 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 3 c.595T>C r.595u>c p.Cys199Arg 0.957 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 16.560 115.258 0.9990 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 3 c.599T>A r.(?) p.(Val200Asp) 0.915403 0.9 Class 5: Pathogenic Class 5: Pathogenic 23.56 1.985 46.78 0.9976 InSiGHT - DNA SEQ - - -
+/+ 3i c.645+1G>A r.[367_645del, 492_645del] p.([Ala123_Gln215del, Tyr165*]) - 0.960 Class 5: Pathogenic Class 5: Pathogenic 11.780 7.870 92.700 0.9996 Thompson et al., 2013 - DNA SEQ - - -
-/- 3'UTR c.*129T>C r.(?) p.(=) - 0.260 Class 1: Not pathogenic Class 1: Not pathogenic 0.003 0.793 0.002 0.0008 Thompson et al., 2013 - DNA SEQ - - -
-?/-? 3'UTR c.*221G>T r.(?) p.(=) - 0.260 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.040 1.351 0.054 0.0186 Thompson et al., 2013 - DNA SEQ - - -
-?/-? 3'UTR c.*226A>G r.(?) p.(=) 0.897 0.260 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.080 - 0.080 0.0273 Thompson et al., 2013 - DNA SEQ - - -
+?/+? 5'UTR c.-78_-77del r.? p.(=) - 0.260 Class 4: Likely pathogenic Class 4: Likely pathogenic 48.442 5.160 249.939 0.9887 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 5 c.913G>A r.913g>a p.Ala305Thr 0.929 0.900 Class 3: Uncertain Class 3: Uncertain 0.100 0.520 0.052 0.3188 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 5 c.929T>C r.(?) p.(Leu310Pro) 0.961 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.941 13.511 0.9918 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 5i c.942+2T>A r.793_942del p.(Val265_Gln314del) - 0.960 Class 5: Pathogenic Class 5: Pathogenic 8.660 - 8.660 0.9952 InSiGHT - DNA SEQ - - -
+/+ 5i c.942+3A>T r.793_942del p.Val265_Gln314del - 0.260 Class 5: Pathogenic Class 5: Pathogenic - 2.09E+04 2.09E+04 0.9999 Thompson et al., 2013 - DNA SEQ - - -
-?/-? 6 c.984C>T r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.346 - 0.346 0.0371 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+?/+? 6 c.989T>C r.(?) p.(Leu330Pro) 0.961 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic 6.960 1.182 8.223 0.9867 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 6 c.991A>G r.991a>g p.Asn331Asp 0.757 0.757 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.040 0.400 0.016 0.0476 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 6 c.1012G>A r.[943_1076del, 1012g>a] p.[Gly315Ilefs*29, Gly338Arg] 0.962 0.900 Class 3: Uncertain Class 3: Uncertain 0.100 2.367 0.237 0.6805 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 6 c.1013G>A r.(?) p.(Gly338Glu) 0.959 0.900 Class 5: Pathogenic Class 5: Pathogenic 11.780 1.350 15.900 0.9931 Thompson et al., 2013 - DNA SEQ - - -
+?/+? 6 c.1022T>C r.1022u>c p.Leu341Pro 0.961 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic - 6.629 6.629 0.9835 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 6 c.1046C>G r.(=) p.(Pro349Arg) 0.971 0.900 Class 5: Pathogenic Class 5: Pathogenic 75.0 1.24 92.99 0.9988 InSiGHT - DNA SEQ - - -
+/+ 6 c.1046C>T r.(?) p.(Pro349Leu) 0.927 0.900 Class 5: Pathogenic Class 5: Pathogenic 0.866 35.700 30.916 0.9964 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 6i c.1076+3A>T r.(?) p.(=) - 0.260 Class 3: Uncertain Class 3: Uncertain - 12.422 12.422 0.8136 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 6i c.1077-2A>C r.(spl?) p.? - 0.96 Class 5: Pathogenic Class 5: Pathogenic 8.66 - 8.66 0.9952 InSiGHT - DNA SEQ - - -
+?/+? 6i c.1077-2A>G r.spl? p.? - 0.960 Class 4: Likely pathogenic Class 4: Likely pathogenic - 1.738 1.738 0.9766 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 7 c.1077A>T r.1077a>u p.Arg359Ser 0.884 0.884 Class 5: Pathogenic Class 5: Pathogenic 3.65E+06 12.139 4.43E+07 1.0000 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-/- 7 c.1168C>T r.1168c>u p.Leu390Phe 0.112 0.112 Class 1: Not pathogenic Class 1: Not pathogenic 1.55E-07 0.276 4.27E-08 5.40E-09 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 7 c.1249_1251dup r.(?) p.(Val417dup) 0.893 0.893 Class 5: Pathogenic Class 5: Pathogenic 6.96 7.423 51.67 0.9952 InSiGHT - DNA SEQ - - -
-?/-? 7 c.1255C>A r.(?) p.(Gln419Lys) 0.002 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.035 - 0.035 0.0038 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 7 c.1275A>G r.[1229_1276del, =] p.[=, Ile411_Gly426del] - 0.100 Class 3: Uncertain Class 3: Uncertain - 0.926 0.926 0.0933 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 7i c.1276+1G>A r.1229_1276del p.(Ile411_Gly426del) - 0.960 Class 5: Pathogenic Class 5: Pathogenic - 5.520 5.520 0.9925 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 8 c.1319T>C r.(?) p.(Leu440Pro) 0.956 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.900 13.224 0.9917 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 8i c.1387-9T>A r.1386_1387ins1387-7_1387-1 p.Val463Phefs*7 - 0.260 Class 5: Pathogenic Class 5: Pathogenic 75.000 25.11 1883.4 0.9984 InSiGHT - DNA SEQ - - -
-?/-? 8i c.1387-8G>T r.= p.= - 0.260 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.077 0.077 0.0264 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+?/+? 9 c.1409T>G r.(?) p.(Val470Gly) 0.725657 0.726 Class 4: Likely pathogenic Class 4: Likely pathogenic 12.81 - 12.81 0.971 InSiGHT - DNA SEQ - - -
?/? 10 c.1571G>T r.(?) p.(Arg524Leu) 0.852 0.852 Class 3: Uncertain Class 3: Uncertain 0.1 3.718 0.3718 0.681 InSiGHT - DNA SEQ - - -
-?/-? 10i c.1661+6C>T r.= p.= - 0.260 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 - 0.100 0.0339 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-/- 10i c.1662-9G>A r.= p.= - 0.260 Class 1: Not pathogenic Class 1: Not pathogenic 2.80E-12 - 2.80E-12 9.85E-13 Thompson et al., 2013 - DNA SEQ - - -
-/- 11 c.1666T>C r.1666u>c p.= - 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 5.86E-06 - 5.86E-06 1.00E-06 Thompson et al., 2013 - DNA SEQ - - -
-/- 11 c.1690A>G r.(=) p.(Thr564Ala) 0.004 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.002 - 0.002 0.0002 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 11 c.1730T>C r.(?) p.(Ile577Thr) 0.325 0.325 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 0.898 0.090 0.0414 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 11 c.1737A>G r.1737a>g p.= - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.057 0.057 0.0063 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 11 c.1755T>C r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.055 0.055 0.0061 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 11i c.1759+2T>A r.spl? p.? - 0.960 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.900 13.224 0.9969 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 12 c.1786_1788del r.1786_1788del p.Asn596del - 0.212 Class 5: Pathogenic Class 5: Pathogenic - 2.53E+06 2.53E+06 1.0000 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 12 c.1787A>G r.1787a>g p.Asn596Ser 0.001 0.100 Class 3: Uncertain Class 3: Uncertain 74.996 0.905 67.864 0.8829 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 12 c.1807G>A r.(?) p.(Asp603Asn) 0.740 0.740 Class 3: Uncertain Class 3: Uncertain - 3.547 3.547 0.9099 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+?/+? 12 c.1808A>G r.(?) p.(Asp603Gly) 0.876 0.876 Class 4: Likely pathogenic Class 4: Likely pathogenic - 6.665 6.665 0.9792 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 12 c.1864C>A r.(?) p.(Pro622Thr) 0.831 0.831 Class 3: Uncertain Class 3: Uncertain - 1.930 1.930 0.9046 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 12 c.1865C>T r.1865c>u p.Pro622Leu 0.927 0.900 Class 5: Pathogenic Class 5: Pathogenic 75.000 6.71E+04 75.000 0.9985 Thompson et al., 2013 - DNA SEQ - - -
-/- 12 c.1886A>G r.(?) p.(Gln629Arg) 0.001 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.241 0.029 0.007 0.0008 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 12 c.1906G>C r.1906g>c p.Ala636Pro 0.045 0.100 Class 5: Pathogenic Class 5: Pathogenic 2.42E+11 4.142 1.00E+12 1.0000 Thompson et al., 2013 - DNA SEQ - - -
+?/+? 12 c.1955C>A r.(?) p.(Pro652His) 0.665 0.665 Class 4: Likely pathogenic Class 4: Likely pathogenic 6.960 1.875 13.049 0.9629 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 12 c.1963G>A r.(?) p.(Val655Ile) 0.000452 0.1 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.08 - 0.08 0.0088 InSiGHT - DNA SEQ - - -
+/+ 12i c.2005+2T>C r.spl? p.? - 0.960 Class 5: Pathogenic Class 5: Pathogenic 6.960 3.763 26.188 0.9984 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/-? 12i c.2005+8dup r.= p.= - 0.260 Class 3: Uncertain Class 2: Likely not pathogenic 1.840 - 1.840 0.3926 Thompson et al., 2013 - DNA SEQ - - -
?/? 12i c.2006-36_2006-33dup r.(?) p.(=) - 0.260 Class 3: Uncertain Class 3: Uncertain - 1.000 1.000 0.2600 Thompson et al., 2013 - DNA SEQ - - -
?/? 13 c.2009C>T r.(?) p.(Pro670Leu) 0.927 0.900 Class 3: Uncertain Class 3: Uncertain 0.100 - 0.100 0.4737 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+?/+? 13 c.2020G>C r.(?) p.(Gly674Arg) 0.962 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.660 - 8.660 0.9873 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+?/+? 13 c.2021G>A r.(?) p.(Gly674Asp) 0.960 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic - 3.700 3.700 0.9708 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 13 c.2023A>G r.(?) p.(Lys675Glu) 0.904273 0.9 Class 5: Pathogenic Class 5: Pathogenic 8.66 2.05 17.74 0.9938 InSiGHT - DNA SEQ - - -
+/+ 13 c.2047G>A r.(?) p.(Gly683Arg) 0.962 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.944 13.533 0.9919 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 13 c.2063T>G r.? p.(Met688Arg) 0.949 0.900 Class 5: Pathogenic Class 5: Pathogenic 8.660 10.000 86.600 0.9987 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+?/+? 13 c.2074G>C r.(?) p.(Gly692Arg) 0.962 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic - 3.547 3.547 0.9696 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 13 c.2081T>C r.(?) p.(Phe694Ser) 0.856456 0.856 Class 5: Pathogenic Class 5: Pathogenic 75.0 22.26 1669.2 0.9999 InSiGHT - DNA SEQ - - -
+/+ 13 c.2087C>T r.2087c>u p.Pro696Leu 0.927 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.900 13.224 0.9917 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 13 c.2089T>C r.2089u>c p.Cys697Arg 0.957 0.900 Class 5: Pathogenic Class 5: Pathogenic 8.660 12.327 106.753 0.9990 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 13 c.2090G>T r.2090g>u p.Cys697Phe 0.880 0.880 Class 5: Pathogenic Class 5: Pathogenic 48.442 7.447 360.745 0.9996 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 13 c.2154A>G r.2154a>g p.= - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.053 0.053 0.0058 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 14 c.2235_2237dup r.(?) p.(Ile747dup) - 0.580 Class 3: Uncertain Class 3: Uncertain 1.840 - 1.840 0.7172 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 14 c.2236_2241del r.(?) p.(Ile746_Ile747del) - 0.742 Class 3: Uncertain Class 3: Uncertain - 3.763 3.763 0.9155 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+/+ 14 c.2251G>A r.2251g>a p.Gly751Arg 0.962 0.900 Class 5: Pathogenic Class 5: Pathogenic 8.660 6.300 54.558 0.9980 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
+?/+? 14 c.2287G>C r.(?) p.(Ala763Pro) 0.965319 0.9 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.66 - 8.66 0.9873 InSiGHT - DNA SEQ - - -
-?/-? 14 c.2437A>G r.(?) p.(Met813Val) 0.486 0.486 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.040 - 0.040 0.0365 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 15 c.2500G>A r.? p.(Ala834Thr) 0.428 0.428 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.004 0.982 0.004 0.0029 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
?/? 15 c.2516A>G r.(?) p.(His839Arg) 0.006 0.100 Class 3: Uncertain Class 3: Uncertain 6.960 - 6.960 0.4361 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
-?/-? 15 c.2579C>T r.(?) p.(Ser860Leu) 0.005 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.346 - 0.346 0.0371 Thompson et al., 2014, InSiGHT - DNA SEQ - - -
1 - 100
[<-] 1 2 [->]

Save Click here to save this list in a tab-delimited text file.

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: [ MSH2 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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. 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: IARC Classification 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. Variant remarks: Variant remarks Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database.

  Powered by LOVD v.2.0 Build 33
Enabled modules: mutalyzer
©2004-2011 Leiden University Medical Center