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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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.

76 entries on 1 page. Showing entries 1 - 76.
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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     
-/. - c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A MLH1(NM_000249.3):c.-93G>A - MLH1_001761 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 1 c.-93G>A r.(?) p.(=) InSiGHT benign g.37034946G>A g.36993455G>A - - MLH1_001761 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as unlikely contributing to CRC risk. However the MLH1 block was found to be significantly different between cases and controls. See supplementary tables. PubMed: Koessler 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as unlikely contributing to CRC risk. However the MLH1 block was found to be significantly different between cases and controls. See supplementary tables. PubMed: Koessler 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as being associated with an increased colorectal cancer risk in MSI-H tumors. PubMed: Campbell 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as being associated with an increased colorectal cancer risk in MSI-H tumors. PubMed: Campbell 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as having no significant effect on DNA repair capacity based on functional work using an alkaline comet assay (alkylating agent methylmethane sulphonate). PubMed: Ryk 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as having no significant effect on DNA repair capacity based on functional work using an alkaline comet assay (alkylating agent methylmethane sulphonate). PubMed: Ryk 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as being associated with a 3-fold risk in developing CRC and particularly CRC with somatic loss of MLH1 protein expression. PubMed: Allan 2008 - - Somatic - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as being associated with a 3-fold risk in developing CRC and particularly CRC with somatic loss of MLH1 protein expression. PubMed: Allan 2008 - - Somatic - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as having no association with survival in invasive ovarian cancer patients. PubMed: Mann 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as having no association with survival in invasive ovarian cancer patients. PubMed: Mann 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as having no effect on CRC susceptibility. PubMed: Tulupova 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as having no effect on CRC susceptibility. PubMed: Tulupova 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A G -> A at 1-93 - MLH1_001761 - PubMed: Ito 1999 - - Germline - 0.5 - 0 - INSiGHT group
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Hou 2004 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Percesepe 1998 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Shin 2002 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Deng 2002 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Deng 2003 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Miyakura 2004 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Suter 2004 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Rollinson 2004 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Park 2004 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Lee 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Lee 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors found this variant to be associated with a higher risk of hepatocellular carcinoma (HCC) PubMed: Chen 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Yu 2006 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe individuals carrying the A allele with having an increased risk of developing endometrial cancer. PubMed: Beiner 2006 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this polymorphism as being associated with an increased risk of MSI-H colorectal cancer. PubMed: Raptis 2007 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A A>G. - MLH1_001761 - PubMed: An 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Hubner 2007 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as a risk allele for the development of cancer after methylating chemotherapy for Hodgkin lymphoma. PubMed: Worrillow 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as being associated with an increased risk of invasive ovarian cancer. PubMed: Harley 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as having no association with survival in invasive ovarian cancer patients. PubMed: Mann 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as having no effect on CRC susceptibility. PubMed: Tulupova 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as having no significant effect on DNA repair capacity based on functional work using an alkaline comet assay (alkylating agent methylmethane sulphonate). PubMed: Ryk 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as having no significant association with malignant neoplasms in the elderly. PubMed: Arai 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Yap 2009 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as being associated with CpG island methylator phenotype, MLH1 methylation, BRAF mutations and older age at diagnosis in microsatellite unstable tumors. PubMed: Samowitz 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this varinat as having a decreased risk of developing MSI-negative colorectal cancer in individuals who were recent smokers. PubMed: Campbell 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe the haplotype -93G, 1151A and 655A as being associated with papillary thyroid carcinoma. PubMed: Shi 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 Authors describe this variant as unlikely contributing to CRC risk. However the MLH1 block was found to be significantly different between cases and controls. See supplementary tables. PubMed: Koessler 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Bujalkova 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Song 2006 - - Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - - - rs1800734 Germline - - - 0 - Michael Woods
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A 1-93G>A - MLH1_001761 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A 1-93G>A - MLH1_001761 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A 1-93G>A - MLH1_001761 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A 1-93G>A - MLH1_001761 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A 1-93G>A - MLH1_001761 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - - - - Unknown - - - 0 - Wan Khairunnisa Wan Juhari
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - - - - Unknown - - - 0 - Wan Khairunnisa Wan Juhari
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - - - - Unknown - - - 0 - Wan Khairunnisa Wan Juhari
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - - - - Unknown - - - 0 - Wan Khairunnisa Wan Juhari
?/. 1 c.-93G>A r.(?) p.(=) - VUS g.37034946G>A g.36993455G>A - - MLH1_001761 - - - - Unknown - - - 0 - Wan Khairunnisa Wan Juhari
-/. 1 c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - PubMed: Pinto el al. 2017 - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
-/. - c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A MLH1(NM_000249.3):c.-93G>A - MLH1_001761 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - - - - Germline - - - 0 - Carlos Vaccaro
-/. - c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - - - - Germline - - - 0 - Carlos Vaccaro
-/. - c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - - - - Germline - - - 0 - Carlos Vaccaro
-/. - c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - - - - Germline - - - 0 - Carlos Vaccaro
-/. - c.-93G>A r.(?) p.(=) - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - - - - Germline - - - 0 - Carlos Vaccaro
-/. - c.-93G>A r.(?) p.(=) - benign g.37034946G>A - MLH1(NM_000249.3):c.-93G>A - MLH1_001761 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
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