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 MLH1 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 MLH1 full legend here.

34 entries
entries per page

Exon

DNA change

Protein

MAPP/PP2 Prior P

Prior P

IARC Classification

InSiGHT Classification

Tumour Char LR

Segregation LR

Odds for causality

Posterior P

Reference

DB-ID

Variant remarks


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	-
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	-
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	-
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	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+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.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	-
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	-
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	-
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	-
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	-
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	-
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	-
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.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	-
12	c.1321G>A	p.(Ala441Thr)	0.011	0.1	Class 1: Not pathogenic	Class 1: Not pathogenic	1.36	0.002	0.003	0.0004	Thompson et al., 2014, InSiGHT	MLH1_00017	-
13i	c.1558+3232_1558+3692delins2	p.(=)	-	0.26	Class 2: Likely not pathogenic	Class 2: Likely not pathogenic	0.1	-	0.1	0.0339	Thompson et al., 2014, InSiGHT	MLH1_00021	-
16	c.1733A>G	p.(Glu578Gly)	0.013	0.1	Class 1: Not pathogenic	Class 1: Not pathogenic	5.54E-05	0.032	1.77E-06	1.96E-07	Thompson et al., 2014, InSiGHT	MLH1_00031	-
16	c.1742C>T	p.Pro581Leu	0.919	0.9	Class 2: Likely not pathogenic	Class 2: Likely not pathogenic	0.1	0.016	0.002	0.0138	Thompson et al., 2014, InSiGHT	MLH1_00032	-
16	c.1799A>G	p.(Glu600Gly)	0.008	0.1	Class 1: Not pathogenic	Class 1: Not pathogenic	-	0.004	0.004	0.0004	Thompson et al., 2014, InSiGHT	MLH1_00035	-
16	c.1808C>G	p.(Pro603Arg)	0.872	0.872	Class 2: Likely not pathogenic	Class 2: Likely not pathogenic	0.002	-	0.002	0.0107	Thompson et al., 2014, InSiGHT	MLH1_00036	-
16	c.1820T>A	p.(Leu607His)	0.869	0.869	Class 2: Likely not pathogenic	Class 2: Likely not pathogenic	0.004	-	0.004	0.0258	Thompson et al., 2014, InSiGHT	MLH1_00037	-
16	c.1852_1853delinsGC	p.Lys618Ala	0.899	0.899	Class 1: Not pathogenic	Class 1: Not pathogenic	2.78E-13	0.117	3.26E-14	2.89E-13	Thompson et al., 2013	MLH1_00040	-
16	c.1853A>C	p.(Lys618Thr)	0.913	0.9	Class 1: Not pathogenic	Class 1: Not pathogenic	1.60E-04	0.016	2.60E-06	2.34E-05	Thompson et al., 2014, InSiGHT	MLH1_00042	-
18	c.2066A>G	p.Gln689Arg	0.005	0.1	Class 1: Not pathogenic	Class 1: Not pathogenic	0.001	-	0.001	0.0001	Thompson et al., 2014, InSiGHT	MLH1_00070	-
18	c.2101C>A	p.(Gln701Lys)	0.004	0.1	Class 2: Likely not pathogenic	Class 2: Likely not pathogenic	-	0.253	0.253	0.0273	Thompson et al., 2014, InSiGHT	MLH1_00074	-
19	c.2128A>G	p.(Asn710Asp)	0.00336	0.1	Class 1: Not pathogenic	Class 1: Not pathogenic	8.66	2.00E-06	1.73E-05	1.92E-06	Pineda et al., 2014	MLH1_00164	-
19	c.2146G>A	p.Val716Met	0.324	0.327	Class 1: Not pathogenic	Class 1: Not pathogenic	4.16E-04	0.204	8.48E-05	4.12E-05	Thompson et al., 2013	MLH1_00078	-
19	c.2252A>G	p.Lys751Arg	0.004	0.1	Class 2: Likely not pathogenic	Class 2: Likely not pathogenic	0.01	-	0.01	0.0011	Thompson et al., 2014, InSiGHT	MLH1_00089	-

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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

LOVD - human mismatch repair genes

MutL homolog 1, ex-UVs (MLH1)