All variants in the MLH1 gene


MLH1 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000249.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? 1 c.-42C>T r.(?) p.(=) InSiGHT VUS g.37034997C>T g.36993506C>T - - MLH1_001591 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-42C>T r.(?) p.(=) - VUS g.37034997C>T g.36993506C>T - - MLH1_001591 Testing stopped when variant detected PubMed: Ward (2013) - - Germline ? - - 0 - Robyn Ward
?/. 1 c.-42C>T r.(=) p.(=) - VUS g.37034997C>T g.36993506C>T - - MLH1_001591 in cDNA MLH1 c.-42C>T biallelic, MLH1 also biallelic in c.-93G>A and c.655A>G , EPM2AIP1 biallelic in 3`UTR c.1824*2570G>T - - - Germline ? - - 0 - Elke Holinski-Feder
+/. 1 c.-42C>T r.(?) p.(=) - pathogenic g.37034997C>T g.36993506C>T -42C->T - MLH1_001591 Functional studies indicated loss of efficiency PubMed: Green 2003 - - Germline - - - 0 - INSiGHT group
?/. 1 c.-42C>T r.(?) p.(=) - VUS g.37034997C>T g.36993506C>T - - MLH1_001591 - PubMed: Muller-Koch 2001,PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.-42C>T r.(?) p.(=) - VUS g.37034997C>T g.36993506C>T - - MLH1_001591 - PubMed: Hubner 2007 - - Germline - - - 0 - Michael Woods
?/. 1 c.-42C>T r.(?) p.(=) - VUS g.37034997C>T g.36993506C>T -42C>T - MLH1_001591 - Noralane Lindor and Steve Thibodeau - - Germline - - - 0 - INSiGHT group
?/. 1 c.-42C>T r.(?) p.(=) - VUS g.37034997C>T g.36993506C>T -42C>T - MLH1_001591 - Mark Jenkins John Hopper - - Germline - - - 0 - INSiGHT group
?/. 1 c.-42C>T r.(?) p.(=) - NA g.37034997C>T g.36993506C>T - - MLH1_001591 Reporter assay in human cell lines: wild-type or variant promoter (c.-513 to c.-1) cloned in Firefly luciferase reporter in the pGL3-Basic vector (Promega) 55% and 84% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively. PubMed: Ward (2013) - - In vitro (cloned) - - - 0 - Robyn Ward
Legend   How to query