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LOVD - Variant listings for MSH6

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51 entries
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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
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Prior P Hide Prior P column Descending
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IARC Classification Hide IARC Classification column Descending
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InSiGHT Classification Hide InSiGHT Classification column Descending
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Tumour Char LR Hide Tumour Char LR column Descending
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Segregation LR Hide Segregation LR column Descending
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Odds for causality Hide Odds for causality column Descending
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Posterior P Hide Posterior P column Descending
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Reference Hide Reference column Descending
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Variant remarks Hide Variant remarks column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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DB-ID Hide DB-ID column Descending
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1 c.38A>C r.(?) p.(Lys13Thr) 0.839 0.839 Class 3: Uncertain Class 3: Uncertain 0.100 - 0.100 0.3429 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00041
1 c.161G>C r.(?) p.(Gly54Ala) 0.001 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 - 0.100 0.0110 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00011
1 c.194C>T r.(?) p.(Ser65Leu) 0.006 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 - 0.100 0.0110 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00016
1 c.241G>A r.(?) p.(Ala81Thr) 0.002 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 0.735 0.074 0.0081 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00025
2 c.431G>T r.(?) p.(Ser144Ile) 0.455 0.455 Class 1: Not pathogenic Class 1: Not pathogenic 0.001 1.217 0.001 0.0007 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00044
2i c.457+2T>A r.spl? p.? - 0.960 Class 5: Pathogenic Class 5: Pathogenic - 6.006 6.006 0.9931 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00046
2i c.457+13A>G r.(?) p.(=) - 0.260 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.040 - 0.040 0.0139 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00045
3'UTR c.*24_*28del r.(=) p.(=) - 0.260 Class 3: Uncertain Class 3: Uncertain - 0.907 0.907 0.2416 Thompson et al., 2013 - DNA SEQ MSH6_00002
4 c.884A>G r.(?) p.(Lys295Arg) 0.342 0.342 Class 3: Uncertain Class 3: Uncertain - 0.666 0.666 0.2576 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00047
4 c.1019T>C r.1019u>c p.Phe340Ser 0.002 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 1.000 0.100 0.0110 Thompson et al., 2013 - DNA SEQ MSH6_00003
4 c.1164C>T r.(=) p.(=) - 0.100 Class 1: Not pathogenic Class 1: Not pathogenic - 1.07E-04 1.07E-04 1.20E-05 Thompson et al., 2013 - DNA SEQ MSH6_00004
4 c.1186C>G r.1186c>g p.Leu396Val 0.026 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.010 0.520 0.005 0.0006 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00005
4 c.1193T>A r.(?) p.(Val398Glu) 0.913 0.900 Class 5: Pathogenic Class 5: Pathogenic 11.780 1.523 17.930 0.9938 Thompson et al., 2013 - DNA SEQ MSH6_00006
4 c.1346T>C r.(?) p.(Leu449Pro) 0.951 0.900 Class 5: Pathogenic Class 5: Pathogenic 1633.226 8686.024 1.42E+07 1.0000 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00007
4 c.1403G>A r.(?) p.(Arg468His) 0.110 0.110 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.033 - 0.033 0.0040 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00008
4 c.1508C>G r.(?) p.(Ser503Cys) 0.752 0.752 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.001 - 0.001 0.0030 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00009
4 c.1565A>G r.(?) p.(Gln522Arg) 0.003 0.100 Class 3: Uncertain Class 3: Uncertain 6.960 1.767 12.300 0.5775 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00010
4 c.1621A>C r.(?) p.(Ser541Arg) 0.901407 0.9 Class 4: Likely pathogenic Class 4: Likely pathogenic - 3.702 3.702 0.9709 InSiGHT - DNA SEQ MSH6_00051
4 c.1667A>T r.(?) p.(Tyr556Phe) 0.007 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.267 0.267 0.0288 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00012
4 c.1676G>A r.(?) p.(Cys559Tyr) 0.464 0.464 Class 3: Uncertain Class 3: Uncertain - 1.733 1.733 0.5997 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00013
4 c.1739C>T r.(?) p.(Ser580Leu) 0.673 0.673 Class 3: Uncertain Class 3: Uncertain 0.100 - 0.100 0.1704 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00014
4 c.1770C>T r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 - 0.100 0.0110 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00015
4 c.2057G>A r.(?) p.(Gly686Asp) 0.916 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic 1.840 1.998 3.676 0.9707 Thompson et al., 2013 - DNA SEQ MSH6_00017
4 c.2117T>C r.(?) p.(Phe706Ser) 0.815 0.815 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.660 1.930 16.713 0.9866 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00018
4 c.2295C>G r.(?) p.(Cys765Trp) 0.952 0.900 Class 3: Uncertain Class 3: Uncertain - 1.930 1.930 0.9456 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00019
4 c.2302_2304del r.(?) p.(Pro768del) 0.756 0.756 Class 3: Uncertain Class 3: Uncertain 0.010 18.089 0.181 0.3587 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00020
4 c.2314C>T r.(?) p.(Arg772Trp) 0.892 0.892 Class 3: Uncertain Class 3: Uncertain - 1.930 1.930 0.9408 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00021
4 c.2319C>A r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 - 0.100 0.0110 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00022
4 c.2319C>T r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.087 0.087 0.0095 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00023
4 c.2341C>T r.2341c>u p.Pro781Ser 0.826 0.826 Class 3: Uncertain Class 3: Uncertain - 1.040 1.040 0.8315 Thompson et al., 2013 - DNA SEQ MSH6_00024
4 c.2633T>C r.(?) p.(Val878Ala) 0.004 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 1.60E-06 0.188 3.00E-07 3.33E-08 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00026
4 c.2661T>G r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 - 0.100 0.0110 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00027
4 c.3160A>T r.(?) p.(Ile1054Phe) 0.003 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 - 0.100 0.0110 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00028
4 c.3163G>C r.(?) p.(Ala1055Pro) 0.756833 0.757 Class 3: Uncertain Class 3: Uncertain - 2.198 2.198 0.872 InSiGHT - DNA SEQ MSH6_00048
5'UTR c.-88G>A r.(?) p.(=) - 0.26 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.1 - 0.1 0.0339 InSiGHT - DNA SEQ MSH6_00050
5'UTR c.-18G>T r.(?) p.(=) - 0.260 Class 3: Uncertain Class 3: Uncertain 0.330 - 0.330 0.1039 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00001
5 c.3188T>G r.(?) p.(Leu1063Arg) 0.956113 0.9 Class 4: Likely pathogenic Class 4: Likely pathogenic - 9.672 9.672 0.9886 InSiGHT - DNA SEQ MSH6_00049
5 c.3207G>T r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 - 0.100 0.0110 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00029
5 c.3226C>T r.3226c>u p.Arg1076Cys 0.805 0.805 Class 3: Uncertain Class 3: Uncertain - 0.543 0.543 0.6915 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00030
5 c.3246G>T r.(?) p.(=) - 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 MSH6_00031
5i c.3439-16C>T r.(?) p.(=) - 0.260 Class 1: Not pathogenic Class 1: Not pathogenic 1.00E-04 0.640 6.40E-05 2.25E-05 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00032
6 c.3485_3487dup r.(?) p.(Ala1162dup) 0.885 0.885 Class 3: Uncertain Class 3: Uncertain - 0.384 0.384 0.7466 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00033
6i c.3557-3A>T r.= p.= - 0.260 Class 2: Likely not pathogenic Class 1: Not pathogenic 0.100 - 0.100 0.0339 InSiGHT minor allele frequency >1% DNA SEQ MSH6_00034
7 c.3563G>A r.(?) p.(Ser1188Asn) 0.740 0.740 Class 3: Uncertain Class 3: Uncertain - 6.353 6.353 0.9477 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00035
7i c.3647-1G>A r.spl? p.? - 0.960 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.783 12.410 0.9967 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00036
8 c.3674C>T r.(?) p.(Thr1225Met) 0.734 0.734 Class 3: Uncertain Class 3: Uncertain 0.100 - 0.100 0.2159 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00037
8 c.3724_3726del r.(?) p.(Arg1242del) 0.900 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic - 2.619 2.619 0.9593 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00038
8 c.3725G>T r.(?) p.(Arg1242Leu) 0.197 0.197 Class 3: Uncertain Class 3: Uncertain - 0.852 0.852 0.1729 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00039
9 c.3851C>T r.(?) p.(Thr1284Met) 0.935 0.900 Class 3: Uncertain Class 3: Uncertain 0.100 - 0.100 0.4737 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00040
9 c.3986C>T r.(?) p.(Ser1329Leu) 0.003 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 - 0.100 0.0110 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00042
9 c.4001G>A r.(?) p.? 0.087 0.100 Class 5: Pathogenic Class 5: Pathogenic 337.154 5.379 1813.670 0.9951 Thompson et al., 2014, InSiGHT - DNA SEQ MSH6_00043
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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: [ MSH6 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. 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. MSH6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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