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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

92 entries on 1 page. Showing entries 1 - 92.
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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     

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Age at death     

VIP     

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Owner     
-?/. - c.2146G>A r.(?) p.(Val716Met) Unknown - likely benign g.37092019G>A g.37050528G>A MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14... - MLH1_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2146G>A r.(?) p.(Val716Met) Unknown - likely benign g.37092019G>A g.37050528G>A MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14... - MLH1_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2146G>A r.(?) p.(Val716Met) Unknown - benign g.37092019G>A g.37050528G>A MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14... - MLH1_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2146G>A r.(?) p.(Val716Met) Unknown - likely benign g.37092019G>A g.37050528G>A MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14... - MLH1_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2146G>A r.(?) p.(Val716Met) Unknown - benign g.37092019G>A g.37050528G>A MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14... - MLH1_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 19 c.2146G>A r.(?) p.(Val716Met) Unknown InSiGHT benign g.37092019G>A g.37050528G>A - - MLH1_000805 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.2146G>A r.(?) p.(Val716Met) Maternal (inferred) - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - - - - Germline - - - - - DNA MLPA, SEQ - screen data 2010-01-01 HNPCC (Lynch) - - 3 Gen; 3 Case CRC 54,30,?60's?; 1 Case Endometriod Ca 46; (Amsterdam II) F - - - - - - - 1 Ruth Armstrong
?/. 19 c.2146G>A r.(?) p.(Val716Met) Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - - - - Germline - - - - - DNA MLPA, SEQ - screen data 2004-01-01 HNPCC (Lynch) - - 3 Gen;4 case CRC 77,75,39,60; 1 case stomach Ca 63 (Amsterdam II) F - - - - - - - 1 Ruth Armstrong
?/. 19 c.2146G>A r.(?) p.(Val716Met) Unknown - VUS g.37092019G>A g.37050528G>A 2146G>A - MLH1_000805 - PubMed: Drost 2010 - - Unknown - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Marcos 2006 - - Germline - - - - - DNA ? - - CRC - - - M - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Parent #1 - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 This individual also had an alteration in MSH2 2210+1G>C. Authors describe Val716Met as a rare polymorphism. PubMed: Kamory 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Parent #1 - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 Authors describe this as a rare polymorphism. This individual also had an alteration in MSH6 c.1770C>T (p.Pro590Pro) and MUTYH c.502C>T (p.Arg168Cys). PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Parent #1 - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 This individual also had an alteration in MSH6 c.2661T>G (p.Leu887Leu). PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Parent #1 - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Caldes 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Wijnen 1998 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wijnen,J.T. 1998 same patient biallelic MUTYH;InSiGHT LOVDv2 ID:6108; ? - Netherlands - - - - - 1 Juul Wijnen
?/. 19 c.2146G>A r.2146g>a p.Val716Met Parent #1 - VUS g.37092019G>A g.37050528G>A G>A at 2146 - MLH1_000805 - Myriad et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 19 c.2146G>A r.2146g>a p.Val716Met Parent #1 - VUS g.37092019G>A g.37050528G>A 2146 G to A - MLH1_000805 - PubMed: Hutter 1998 - - Germline - - - - - DNA SEQ - - ? - - - ? - Switzerland - - - - - 1 INSiGHT group
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - - - - Germline - - - - - DNA DGGE, SEQ - - CRC - - - - - Netherlands - - - - - 1 Rolf Sijmons
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - - - - Germline - - - - - DNA SEQ - - CRC - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - - - - Germline - - - - - DNA DHPLC, SEQ - - CRC - - - - - Netherlands - - - - - 1 Hans Gille
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - pathogenic g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Raevaara 2005 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 19 c.2146G>A r.2146g>a p.Val716Met Parent #1 - VUS g.37092019G>A g.37050528G>A This individual also had a mutation in intron 7 589-2A>G. - MLH1_000805 Authors describe the in vitro functional analysis as showing conflicting results (normal function and/or >85% reduction in binding PMS2 and/or loss of MMR function). PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 Authors describe the in vitro functional analysis as showing conflicting results (normal function vs. loss of MMR function). The effect on mRNA was aberrant splicing (truncated protein). PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 Authors describe the in vitro functional analysis as showing conflicting results (normal function vs. loss of MMR function). The effect on mRNA was aberrant splicing (truncated protein). PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 authors describe the in vitro functional analysis as showing conflicting results (normal function vs. loss of MMR function). The effect on mRNA was aberrant splicing (truncated protein). PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 Authors describe the in vitro functional analysis as showing conflicting results (normal function vs. loss of MMR function). The effect on mRNA was aberrant splicing (truncated protein). PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 Authors describe this mutation as neutral, tolerated, benign, and/or deleterious based on various computational algorithms and the in vitro activity as wild type(see supplementary data). PubMed: Chan 2007 - - Unknown - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Kowalski 1997 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Genuardi 1998 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Syngal 1999,PubMed: Mueller 2009 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Capozzi 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Genuardi 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Fornasarig 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Dieumegard 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Otway 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 Somatic PubMed: Cunningham 2001 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Muller-Koch 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Caldes 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Raschle 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Ward 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Nilbert 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Caldes 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Wolf 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Raevaara 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Auclair 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Hegde 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Hampel 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Yuan 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Lagerstedt Robinson 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Barnetson 2008 - - Germline - 6/1000 controls - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Marcos 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Mao 2008 - - Germline - - - - - DNA ? - - AML - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A a 2206G>A. - MLH1_000805 - PubMed: Rubio-del-Campo 2008 - - Germline - - - - - DNA ? - - cancer, kidney - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A 2206A>G. - MLH1_000805 - PubMed: Gylling 2008 - - Germline - - - - - DNA ? - - cancer, bladder, cancer, prostate - - - ? - - - - - - - 1 Michael Woods
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - - ? - Switzerland - - - - - 1 Rolf Sijmons
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Takahashi 2007 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - likely benign g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Tanyi 2008 - - Germline - - - - - DNA SEQ - - CRC - - Proband had cecal and rectal adenocarcinoma at 25. Brother had tubulovillous adenoma sigmoid at 28. Father had prostate ca and mucinous adenocarcinoma of cecum. Grandfather had colon ca at 77. ;InSiGHT LOVDv2 ID:1008488; M - - - - - - - 1 Michael Woods
-?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - likely benign g.37092019G>A g.37050528G>A - - MLH1_000805 - - - - Germline - - - - - DNA SEQ - - cancer, endometrial - - - F - Finland - - - - - 1 Carli Tops
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ - - cancer, endometrial - - germline PMS2 c.736_741del6ins11 and MLH1 c.2146G>A (p.Val716Met);InSiGHT LOVDv2 ID:1012869; F - (Netherlands) - - - - - 1 Carli Tops
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Thompson 2013 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Mark Jenkins
?/. 19 c.2146G>A r.(?) p.(Val716Met) Unknown - VUS g.37092019G>A g.37050528G>A Exon 19 2146G>A p.Val716Met Poly - MLH1_000805 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 19 c.2146G>A r.(?) p.(Val716Met) Unknown - VUS g.37092019G>A g.37050528G>A MLH1:2146G>A (p.Val716Met) - MLH1_000805 - Adrienne Sexton, Kirsty Mann - - Germline - - - - - DNA SEQ - - ? - - Proband dx CRC 37y and 54y. Sib dx glioblastoma 61y. Sib dx hyperplastic polyps 40y. Pat hx: 4th degree rels dx CRC, gastric. - - - - - - - - 1 INSiGHT group
?/. 19 c.2146G>A r.(?) p.(Val716Met) Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 MLH1:c.2146G>A; MSH2:c.2038C>T p.(Arg680*) Mark Jenkins - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 19 c.2146G>A r.(?) p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A - - MLH1_000805 MLH1:c.2146G>A + MSH6:c.3261del Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - cancer, endometrial - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016826; F - - - - - - - 1 INSiGHT group
?/. 19 c.2146G>A r.(?) p.Val716Met Unknown - VUS g.37092019G>A g.37050528G>A 2146G>A - MLH1_000805 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: methylation; Method: MS-MLPA; Last known age healthy/unknown disease: 62;InSiGHT LOVDv2 ID:1016828; F - - - - - - - 1 INSiGHT group
-/. 19 c.2146G>A r.(?) p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A 2146G>A - MLH1_000805 - {PMID:Andersen Hum Mutat. 2012 Dec;33(12):1647-55.:22753075} - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 19 c.2146G>A r.(?) p.Val716Met Unknown - benign g.37092019G>A g.37050528G>A 2146G>A - MLH1_000805 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. - c.2146G>A r.(?) p.(Val716Met) Unknown - benign g.37092019G>A g.37050528G>A [1814_1816delAAG;2146G>A] - MLH1_000805 Transcript analysis demonstrated that both are in cis (Figure 3A), therefore the compound variant (p.Glu605del + p.Val716Met) was used for functional testing ... the data suggest that the compound variant is pathogenic due to a reduction of protein stability "Germline (inherited) PubMed: Hinrichsen 2015 - - Germline - - - - - DNA ? - - ?, CRC - PubMed: Hinrichsen 2015 - M - Germany - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - NA g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - NA g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - NA g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - NA g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Auclair 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - NA g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - NA g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - NA g.37092019G>A g.37050528G>A - - MLH1_000805 - PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - NA g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.2146G>A r.2146g>a p.Val716Met Unknown - NA g.37092019G>A g.37050528G>A V716M - MLH1_000805 {GR:85} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2146G>A r.(?) p.(Val716Met) Parent #1 - benign g.37092019G>A g.37050528G>A - - MLH1_000805 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35831931 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.2146G>A r.(?) p.(Val716Met) Unknown - benign g.37092019G>A - MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14... - MLH1_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 19 c.2146G>A r.(?) p.(Val716Met) Unknown - benign g.37092019G>A g.37050528G>A - - MLH1_000805 - - - - Germline/De novo (untested) - - - - - DNA SEQ - year test performed: 2010 ? - - - M - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
-/. - c.2146G>A r.(?) p.(Val716Met) Unknown - benign g.37092019G>A - MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14... - MLH1_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2146G>A r.(?) p.(Val716Met) Unknown - benign g.37092019G>A - MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14... - MLH1_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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