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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

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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     

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Age at death     

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?/. - c.977T>C r.(?) p.(Val326Ala) Parent #1 - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 Swiss-Prot: disease causing; SIFT: deleterious; PolyPhen-2: HumDiv (0,6): possibly damaging - - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.977T>C r.(?) p.(Val326Ala) Unknown - likely benign g.37061893T>C g.37020402T>C MLH1(NM_000249.3):c.977T>C (p.(Val326Ala), p.V326A), MLH1(NM_000249.4):c.977T>C (p.V326A), MLH1(NM_001258274.3):c.254T>C (p.V85A) - MLH1_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.977T>C r.(?) p.(Val326Ala) Unknown - benign g.37061893T>C g.37020402T>C MLH1(NM_000249.3):c.977T>C (p.(Val326Ala), p.V326A), MLH1(NM_000249.4):c.977T>C (p.V326A), MLH1(NM_001258274.3):c.254T>C (p.V85A) - MLH1_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.977T>C r.977u>c p.Val326Ala Unknown InSiGHT benign g.37061893T>C g.37020402T>C - - MLH1_000433 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.977T>C r.977u>c p.Val326Ala Parent #1 - VUS g.37061893T>C g.37020402T>C T -> C at 977 - MLH1_000433 - PubMed: Buerstedde 1995 - - Germline - - - - - DNA SEQ - - ? - - - ? - Switzerland - - - - - 1 INSiGHT group
?/. 11 c.977T>C r.977u>c p.Val326Ala Parent #1 - VUS g.37061893T>C g.37020402T>C T -> C at 977 - MLH1_000433 - PubMed: Liu 1996 - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 11 c.977T>C r.977u>c p.Val326Ala Parent #1 - VUS g.37061893T>C g.37020402T>C T>C at 977 - MLH1_000433 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 Authors describe the in vitro functional analysis as showing conflicting results (normal function vs. MMR reduced efficiency). The effect on mRNA was a reduced transcript. PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Genuardi 1998,PubMed: Pastrello 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Curia 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Capozzi 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Genuardi 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Fornasarig 2000,PubMed: Pastrello 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Dieumegard 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Raschle 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Kim 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Hampel 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C - - MLH1_000433 Functional analysis using the pCAS ex vivo splicing assay demonstrated this variant had no effect. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - geogr. origin: Switzerland, North America, New Zealand and Europe;InSiGHT LOVDv2 ID:1005962; ? - Switzerland - - - - - 1 Rolf Sijmons
+/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - pathogenic g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - pathogenic g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Takahashi 2007 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - pathogenic g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - benign g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - pathogenic g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Spaepen 2006 - - Germline - - - - - DNA DGGE - - CRC - - - - - Belgium - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 11 c.977T>C r.(?) p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C 977T>C - MLH1_000433 - Alessandra Viel - - Germline - - - - - DNA SSCA - - cancer, rectal - - - F - - - - - - - 1 INSiGHT group
?/. 11 c.977T>C r.(?) p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C 977T>C - MLH1_000433 Second tumor: Ovary borderline Alessandra Viel - - Germline - - - - - DNA SEQ - - cancer - - no family history F - - - - - - - 1 INSiGHT group
?/. 11 c.977T>C r.(?) p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C 977T>C - MLH1_000433 - Alessandra Viel - - Germline - - - - - DNA SSCA - - cancer, rectal - - - F - - - - - - - 1 INSiGHT group
?/. 11 c.977T>C r.(?) p.Val326Ala Unknown - VUS g.37061893T>C g.37020402T>C 977T>C - MLH1_000433 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: methylation; Method: MS-MLPA; Last known age healthy/unknown disease: 80;InSiGHT LOVDv2 ID:1016829; F - - - - - - - 1 INSiGHT group
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Ellison 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Tournier 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Shimodaira 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Ellison 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Trojan 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C - - MLH1_000433 - PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Shimodaira 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Trojan 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.977T>C r.977u>c p.Val326Ala Unknown - NA g.37061893T>C g.37020402T>C V326A - MLH1_000433 {GR:83} PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.977T>C r.(?) p.(Val326Ala) Parent #1 - benign g.37061893T>C g.37020402T>C - - MLH1_000433 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs63751049 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.977T>C r.(?) p.(Val326Ala) Parent #1 - NA g.37061893T>C - chr3_37061893_T_C - MLH1_000433 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 66/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 66 BRIDGES consortium
?/. - c.977T>C r.(?) p.(Val326Ala) Parent #1 - NA g.37061893T>C - chr3_37061893_T_C - MLH1_000433 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 44/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 44 BRIDGES consortium
-/. - c.977T>C r.(?) p.(Val326Ala) Unknown - benign g.37061893T>C - MLH1(NM_000249.3):c.977T>C (p.(Val326Ala), p.V326A), MLH1(NM_000249.4):c.977T>C (p.V326A), MLH1(NM_001258274.3):c.254T>C (p.V85A) - MLH1_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.977T>C r.(?) p.(Val326Ala) Unknown - benign g.37061893T>C - MLH1(NM_000249.3):c.977T>C (p.(Val326Ala), p.V326A), MLH1(NM_000249.4):c.977T>C (p.V326A), MLH1(NM_001258274.3):c.254T>C (p.V85A) - MLH1_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.977T>C r.(?) p.(Val326Ala) Unknown - likely benign g.37061893T>C - MLH1(NM_000249.3):c.977T>C (p.(Val326Ala), p.V326A), MLH1(NM_000249.4):c.977T>C (p.V326A), MLH1(NM_001258274.3):c.254T>C (p.V85A) - MLH1_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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