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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

62 entries on 1 page. Showing entries 1 - 62.
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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     
+/. - c.1731G>A r.(?) p.(Ser577=) Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown InSiGHT pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Parent #1 - pathogenic g.37083822G>A g.37042331G>A G -> A at 1731 - MLH1_000597 - Heinimann (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - Switzerland - - - - - 1 INSiGHT group
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Parent #1 - pathogenic g.37083822G>A g.37042331G>A G --> A at 1731 - MLH1_000597 - PubMed: Kohonen-Corish 1996 - - Germline - - - - - DNA SEQ - - ? - - - ? - Australia - - - - - 1 INSiGHT group
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Parent #1 - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - Germany - - - - - 1 Beate Dr. Betz
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A S577S - MLH1_000597 {GR:369} PubMed: Auclair 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A S577S - MLH1_000597 {GR:369} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A S577S - MLH1_000597 {GR:369} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - benign g.37083822G>A g.37042331G>A S577S - MLH1_000597 {GR:369} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A S577S - MLH1_000597 {GR:369} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A S577S - MLH1_000597 {GR:369} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A S577S - MLH1_000597 {GR:369} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A Deletion of Exon 15 - MLH1_000597 - PubMed: Kohonen-Corish 1996 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A - - MLH1_000597 Aberrant Splicing?; Somatic PubMed: Wu 1997 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A Deletion of Exon 15 - MLH1_000597 - PubMed: Plaschke 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A Deletion of Exon 15 - MLH1_000597 - PubMed: Pistorius 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A Deletion of Exon 15 - MLH1_000597 - PubMed: Raedle 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A Deletion of Exon 15 - MLH1_000597 - PubMed: Cai 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A - - MLH1_000597 - PubMed: Sun 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A - - MLH1_000597 - PubMed: Auclair 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A Deletion of Exon 15 - MLH1_000597 - PubMed: Pagenstecher 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A Deletion of Exon 15 - MLH1_000597 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A splice site - MLH1_000597 - PubMed: Scott 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A Deletion of Exon 15 - MLH1_000597 - PubMed: Kurzawski 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A - - MLH1_000597 Authors describe this as splice site. PubMed: Yap 2009 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - likely pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 Deletion of Exon 15; Functional analysis using the pCAS ex vivo splicing assay and RNA analysis demonstrated this variant resulted in the skipping of exon 15. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A - - MLH1_000597 - PubMed: Bujalkova 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - VUS g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A Authors describe this variants as resulting in the skipping of exon 15. - MLH1_000597 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 Rodney Scott
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A Authors describe this variants as resulting in the skipping of exon 15. - MLH1_000597 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 Rodney Scott
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A Authors describe this variants as resulting in the skipping of exon 15. - MLH1_000597 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 Rodney Scott
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A p.(Ser577Ser) - MLH1_000597 - PubMed: De Lellis 2013 - - Germline - - - - - DNA DHPLC, SEQ - - HNPCC (Lynch) - - - - - Italy - - - - - 1 Laura De Lellis
?/. 15 c.1731G>A r.(?) p.Ser577Ser Unknown - VUS g.37083822G>A g.37042331G>A 1731G>A - MLH1_000597 Variant Allele: Maternal Inferred José Luis Soto - - Germline - - - - - DNA SEQ - - CRC - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013544; M - - - - - - - 1 INSiGHT group
?/. 15 c.1731G>A r.(?) p.Ser577Ser Unknown - VUS g.37083822G>A g.37042331G>A 1731G>A - MLH1_000597 Variant Allele: Paternal Inferred José Luis Soto - - Germline - - - - - DNA SEQ - - CRC - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013545; M - - - - - - - 1 INSiGHT group
?/. 15 c.1731G>A r.(?) p.Ser577Ser Unknown - VUS g.37083822G>A g.37042331G>A 1731G>A - MLH1_000597 - José Luis Soto - - Germline - - - - - DNA SEQ - - cancer, ovarian, CRC - - MLH1 Methylation: Negative; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013546; F - - - - - - - 1 INSiGHT group
?/. 15 c.1731G>A r.(?) p.Ser577Ser Unknown - VUS g.37083822G>A g.37042331G>A 1731G>A - MLH1_000597 - José Luis Soto - - Germline - - - - - DNA SEQ - - CRC - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013547; M - - - - - - - 1 INSiGHT group
?/. 15 c.1731G>A r.(?) p.(Ser577=) Unknown - VUS g.37083822G>A g.37042331G>A Exon 15 1731G>A (reported p.Ser556Argfs*14) - MLH1_000597 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 15 c.1731G>A r.(?) p.(Ser577=) Unknown - VUS g.37083822G>A g.37042331G>A Exon 15 1731G>A (reported p.Ser556Argfs*14) - MLH1_000597 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 15 c.1731G>A r.(?) p.(Ser577=) Unknown - VUS g.37083822G>A g.37042331G>A Exon 15 1731G>A (reported p.Ser556Argfs*14) - MLH1_000597 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 15 c.1731G>A r.(?) p.(Ser577=) Unknown - VUS g.37083822G>A g.37042331G>A Exon 15 1731G>A (reported p.Ser556Argfs*14) - MLH1_000597 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 15 c.1731G>A r.(?) p.(Ser577=) Unknown - VUS g.37083822G>A g.37042331G>A Exon 15 1731G>A (reported p.Ser556Argfs*14) & Exon 1 42A>C UCV - MLH1_000597 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 15 c.1731G>A r.(?) p.(Ser577=) Unknown - VUS g.37083822G>A g.37042331G>A 1731G>A - MLH1_000597 - Carli Tops - - Germline - - - - - DNA SEQ - - CRC - - BRAF V600E mutation status: not given; BRAF testing method: not given;InSiGHT LOVDv2 ID:1016695; F - - - - - - - 1 INSiGHT group
?/. 15 c.1731G>A r.(?) p.Ser577Ser Unknown - VUS g.37083822G>A g.37042331G>A 1731G>A - MLH1_000597 - Liying Zhang - - Germline - - - - - DNA SEQ - - CRC - - BRAF V600E mutation status: n/a; BRAF testing method: ;InSiGHT LOVDv2 ID:1016883; M - - - - - - - 1 INSiGHT group
+/. 15 c.1731G>A r.(?) p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA SEQ - - CRC - - - F - Spain - - - - - 1 José Luis Soto
+/. 15 c.1731G>A r.(?) p.Ser556Argfs*14 Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA SEQ - - CRC - - - F - Spain - - - additional info and pedigree - 1 José Luis Soto
+/. 15 c.1731G>A r.(?) p.Ser556Argfs*14 Paternal (inferred) - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 - - - - Germline - - - - - DNA SEQ - - CRC - - - F - Spain - - - - - 1 José Luis Soto
+/. 15 c.1731G>A r.(1668_1731del) p.(S556Rfs*14) Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 No RNA could be isolated to confirm splicing effect. - - - Somatic - 35 - - - RNA PCR FFPE Splicing Assay CRC - - - - - Netherlands - - - - - 1 Anne Jansen
+/. - c.1731G>A r.(?) p.(Ser556Argfs*14) Unknown - pathogenic g.37083822G>A g.37042331G>A Aberrant splicing - MLH1_000597 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. 15 c.1731G>A r.(=) p.(=) Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 ICCON data, Royal Prince Alfred/Liverpool, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1731G>A r.(=) p.(=) Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 ICCON data, Westmead, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1731G>A r.(=) p.(=) Unknown - pathogenic g.37083822G>A g.37042331G>A - - MLH1_000597 ICCON data, Westmead, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - NA g.37083822G>A g.37042331G>A S577S - MLH1_000597 {GR:369} PubMed: Tournier 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - NA g.37083822G>A g.37042331G>A S577S - MLH1_000597 {GR:369} PubMed: Auclair 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - NA g.37083822G>A g.37042331G>A S577S - MLH1_000597 {GR:369} PubMed: Auclair 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.1731G>A r.1668_1731del p.Ser556Argfs*14 Unknown - NA g.37083822G>A g.37042331G>A Deletion of Exon 15; GGT to AGT. - MLH1_000597 - PubMed: Liu 1995 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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