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LOVD - Variant listings for PMS2

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

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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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3 c.180C>G r.(?) p.(Asp60Glu) 4.05E-04 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 0.164 0.016 0.0018 Thompson et al., 2014, InSiGHT - DNA SEQ PMS2_00003
11 c.1688G>T r.(?) p.(Arg563Leu) 0.001 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.021 0.021 0.0023 Thompson et al., 2014, InSiGHT - DNA SEQ PMS2_00004
11 c.1789A>T r.1789a>u p.Thr597Ser 3.54E-04 0.100 Class 2: Likely not pathogenic Class 1: Not pathogenic 0.135 1.000 0.135 0.0148 Thompson et al., 2014, InSiGHT - DNA SEQ PMS2_00005
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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: [ PMS2 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. PMS2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.