Search unique variants - LOVD - human mismatch repair genes

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Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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The variants below are all in the MSH6 database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
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.

23 entries
entries per page

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


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+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
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.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.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.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.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.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
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	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.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
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
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

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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.

LOVD - human mismatch repair genes

MutS homolog 6, ex-UVs (MSH6)