View all contents - LOVD - human mismatch repair genes

Batch queries can be done using pipe "|" as a separator between search terms. 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.

About this overview [Show]

The variants below are all in the PMS2_priors 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 PMS2_priors, 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 PMS2_priors full legend here.

5735 public entries
entries per page

Path.

Exon

DNA change

RNA change

Protein

Custom PP2.1 score

MAPP score

MAPP/PP2 Prior P

Reference

Template

Technique

DB-ID

Disease

Reference

Remarks


?/?	15	c.2570G>T	-	p.G857V	0.027	11.38	0.0275	Thompson et al., 2013	DNA	SEQ	PMS2_05701	-	-	-
?/?	15	c.2572G>A	-	p.V858I	0.010	2.61	0.0009	Thompson et al., 2013	DNA	SEQ	PMS2_05703	-	-	-
?/?	15	c.2572G>C	-	p.V858L	0.005	1.86	0.0004	Thompson et al., 2013	DNA	SEQ	PMS2_05704	-	-	-
?/?	15	c.2572G>T	-	p.V858F	0.267	4.54	0.0097	Thompson et al., 2013	DNA	SEQ	PMS2_05702	-	-	-
?/?	15	c.2573T>A	-	p.V858D	0.506	7.29	0.0734	Thompson et al., 2013	DNA	SEQ	PMS2_05706	-	-	-
?/?	15	c.2573T>C	-	p.V858A	0.071	8.45	0.0171	Thompson et al., 2013	DNA	SEQ	PMS2_05705	-	-	-
?/?	15	c.2573T>G	-	p.V858G	0.249	12.22	0.0789	Thompson et al., 2013	DNA	SEQ	PMS2_05707	-	-	-
?/?	15	c.2575A>C	-	p.I859L	0.009	1.94	0.0005	Thompson et al., 2013	DNA	SEQ	PMS2_05709	-	-	-
?/?	15	c.2575A>G	-	p.I859V	0.007	10.42	0.0208	Thompson et al., 2013	DNA	SEQ	PMS2_05710	-	-	-
?/?	15	c.2575A>T	-	p.I859F	0.413	7.96	0.0611	Thompson et al., 2013	DNA	SEQ	PMS2_05708	-	-	-
?/?	15	c.2576T>A	-	p.I859N	0.616	23.02	0.6327	Thompson et al., 2013	DNA	SEQ	PMS2_05711	-	-	-
?/?	15	c.2576T>C	-	p.I859T	0.206	18.69	0.1576	Thompson et al., 2013	DNA	SEQ	PMS2_05713	-	-	-
?/?	15	c.2576T>G	-	p.I859S	0.413	23.14	0.4233	Thompson et al., 2013	DNA	SEQ	PMS2_05712	-	-	-
?/?	15	c.2577T>G	-	p.I859M	0.091	7.06	0.0124	Thompson et al., 2013	DNA	SEQ	PMS2_05714	-	-	-
?/?	15	c.2578T>A	-	p.S860T	0.522	2.17	0.0054	Thompson et al., 2013	DNA	SEQ	PMS2_05717	-	-	-
?/?	15	c.2578T>C	-	p.S860P	0.873	2.59	0.0349	Thompson et al., 2013	DNA	SEQ	PMS2_05716	-	-	-
?/?	15	c.2578T>G	-	p.S860A	0.078	3.82	0.0029	Thompson et al., 2013	DNA	SEQ	PMS2_05715	-	-	-
?/?	15	c.2579C>A	-	p.S860Y	0.900	3.75	0.0858	Thompson et al., 2013	DNA	SEQ	PMS2_05720	-	-	-
?/?	15	c.2579C>G	-	p.S860C	0.900	4.08	0.1021	Thompson et al., 2013	DNA	SEQ	PMS2_05718	-	-	-
?/?	15	c.2579C>T	-	p.S860F	0.900	5.31	0.1714	Thompson et al., 2013	DNA	SEQ	PMS2_05719	-	-	-
?/?	15	c.2581C>A	-	p.Q861K	0.145	23.00	0.1877	Thompson et al., 2013	DNA	SEQ	PMS2_05722	-	-	-
?/?	15	c.2581C>G	-	p.Q861E	0.220	23.85	0.2568	Thompson et al., 2013	DNA	SEQ	PMS2_05721	-	-	-
?/?	15	c.2582A>C	-	p.Q861P	0.004	16.74	0.0581	Thompson et al., 2013	DNA	SEQ	PMS2_05724	-	-	-
?/?	15	c.2582A>G	-	p.Q861R	0.432	22.91	0.4376	Thompson et al., 2013	DNA	SEQ	PMS2_05725	-	-	-
?/?	15	c.2582A>T	-	p.Q861L	0.011	8.44	0.0132	Thompson et al., 2013	DNA	SEQ	PMS2_05723	-	-	-
?/?	15	c.2583G>C	-	p.Q861H	0.453	11.77	0.1580	Thompson et al., 2013	DNA	SEQ	PMS2_05726	-	-	-
?/?	15	c.2583G>T	-	p.Q861H	0.453	11.77	0.1580	Thompson et al., 2013	DNA	SEQ	PMS2_05727	-	-	-
?/?	15	c.2584A>C	-	p.N862H	0.250	3.79	0.0060	Thompson et al., 2013	DNA	SEQ	PMS2_05729	-	-	-
?/?	15	c.2584A>G	-	p.N862D	0.002	1.52	0.0003	Thompson et al., 2013	DNA	SEQ	PMS2_05728	-	-	-
?/?	15	c.2584A>T	-	p.N862Y	0.250	5.67	0.0148	Thompson et al., 2013	DNA	SEQ	PMS2_05730	-	-	-
?/?	15	c.2585A>C	-	p.N862T	0.035	3.88	0.0025	Thompson et al., 2013	DNA	SEQ	PMS2_05733	-	-	-
?/?	15	c.2585A>G	-	p.N862S	0.006	3.42	0.0017	Thompson et al., 2013	DNA	SEQ	PMS2_05732	-	-	-
?/?	15	c.2585A>T	-	p.N862I	0.357	10.52	0.0881	Thompson et al., 2013	DNA	SEQ	PMS2_05731	-	-	-
?/?	15	c.2586C>A	-	p.N862K	0.083	4.07	0.0035	Thompson et al., 2013	DNA	SEQ	PMS2_05735	-	-	-
?/?	15	c.2586C>G	-	p.N862K	0.083	4.07	0.0035	Thompson et al., 2013	DNA	SEQ	PMS2_05734	-	-	-

5701 - 5735
[<<] [<-] ... 53 54 55 56 57 58 [->] [>>]

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: [ PMS2_priors 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. Custom PP2.1 score: Custom PolyPhen 2.1 score MAPP score: output score from MAPP MAPP/PP2 Prior P: MAPP/PP2 Prior probability of pathogenicity Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. PMS2 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

In silico PMS2 priors (PMS2_priors)