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LOVD - Variant listings for MSH2

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Patient data (#0000233)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 3
DNA change c.435T>G   (View in UCSC Genome Browser)
RNA change r.(=)
Protein p.(Ile145Met)
MAPP/PP2 Prior P 0.005
Prior P 0.100
IARC Classification Class 3: Uncertain
InSiGHT Classification Class 3: Uncertain
Tumour Char LR 8.660
Segregation LR 0.972
Odds for causality 8.419
Posterior P 0.4833
Reference Thompson et al., 2014, InSiGHT
Variant remarks -
Template DNA
Technique SEQ

1 entry in MSH2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
MAPP/PP2 Prior P Descending
Ascending
Prior P Descending
Ascending
IARC Classification Descending
Ascending
InSiGHT Classification Descending
Ascending
Tumour Char LR Descending
Ascending
Segregation LR Descending
Ascending
Odds for causality Descending
Ascending
Posterior P Descending
Ascending
Reference Descending
Ascending
Variant remarks Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
?/? Unknown 3 c.435T>G r.(=) p.(Ile145Met) 0.005 0.100 Class 3: Uncertain Class 3: Uncertain 8.660 0.972 8.419 0.4833 Thompson et al., 2014, InSiGHT - DNA SEQ