Full data view for gene MLH1


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 10 c.875T>C r.875u>c p.Leu292Pro Unknown InSiGHT VUS g.37059081T>C g.37017590T>C - - MLH1_000381 Insight class: 3 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - VUS g.37059081T>C g.37017590T>C - - MLH1_000381 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - VUS g.37059081T>C g.37017590T>C - - MLH1_000381 - PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - VUS g.37059081T>C g.37017590T>C - - MLH1_000381 - PubMed: Kurzawski 2002,PubMed: Kurzawski 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - VUS g.37059081T>C g.37017590T>C - - MLH1_000381 - PubMed: Pagenstecher 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - VUS g.37059081T>C g.37017590T>C L292P - MLH1_000381 {GR:335} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - geogr. origin: German, age of onset: 46;InSiGHT LOVDv2 ID:1005846; ? - - - - - - - 1 Rolf Sijmons
+/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - pathogenic g.37059081T>C g.37017590T>C L292P - MLH1_000381 {GR:335} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - benign g.37059081T>C g.37017590T>C L292P - MLH1_000381 {GR:335} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - pathogenic g.37059081T>C g.37017590T>C L292P - MLH1_000381 {GR:335} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - benign g.37059081T>C g.37017590T>C L292P - MLH1_000381 {GR:335} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - pathogenic g.37059081T>C g.37017590T>C L292P - MLH1_000381 {GR:335} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 10 c.875T>C r.875u>c p.Leu292Pro Unknown - VUS g.37059081T>C g.37017590T>C - - MLH1_000381 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
?/? - c.875T>C r.(?) p.(Leu292Pro) Unknown InSiGHT VUS g.37059081T>C - - - MLH1_000381 - - - - Germline/De novo (untested) - - - - - DNA ? - - CRC - - Variant detected in patient with bowel cancer age 28 Patient’s mother died aged 49, she had stomach cancer and possibly also breast cancer. Patient’s uncle had bowel cancer diagnosed aged 37 and he died aged 42. Grandmother died from breast cancer aged 55. - - (United Kingdom (Great Britain)) - - - - - 1 InSiGHT - John-Paul Plazzer
+?/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - likely pathogenic g.37059081T>C - MLH1(NM_000249.3):c.875T>C (p.(Leu292Pro)) - MLH1_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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