View all contents - LOVD - human mismatch repair genes

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The variants below are all in the MSH6 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than MSH6, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the MSH6 full legend here.

51 public entries
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Path.

Exon

DNA change

RNA change

Protein

MAPP/PP2 Prior P

Prior P

IARC Classification

InSiGHT Classification

Tumour Char LR

Segregation LR

Odds for causality

Posterior P

Reference

Variant remarks

Template

Technique

DB-ID

Disease

Reference

Remarks


?/?	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.
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. MSH6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. 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.

LOVD - human mismatch repair genes

MutS homolog 6, ex-UVs (MSH6)