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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

64 entries on 1 page. Showing entries 1 - 64.
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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.1217G>A r.(?) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A MLH1(NM_000249.3):c.1217G>A (p.S406N, p.(Ser406Asn)), MLH1(NM_000249.4):c.1217G>A (p.S406N) - MLH1_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown InSiGHT benign g.37067306G>A g.37025815G>A - - MLH1_000481 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 - PubMed: Drost 2010 - - Unknown - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Parent #1 - VUS g.37067306G>A g.37025815G>A G -> A at 1217; codon 407 - MLH1_000481 - PubMed: Wu 1997 - - Germline - 0.015 - - - DNA SEQ - - ?, CRC - - - ? - Finland - - - - - 1 INSiGHT group
+/. 12 c.1217G>A r.(=) p.(Ser406Asn) Parent #1 - pathogenic g.37067306G>A g.37025815G>A G->A at 1217 - MLH1_000481 - PubMed: Cunningham 2001 - - Germline - - - - - DNA SEQ - - ? - - - ? - United States - - - - - 1 INSiGHT group
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A - - MLH1_000481 Authors describe the in vitro functional analysis as showing normal function. PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A - - MLH1_000481 - PubMed: Genuardi 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A - - MLH1_000481 - PubMed: Fornasarig 2000,PubMed: Pastrello 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A - - MLH1_000481 - PubMed: Kim 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A - - MLH1_000481 - PubMed: Barnetson 2008 - - Germline - 1/1022 controls - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A - - MLH1_000481 Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. PubMed: Christensen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A - - MLH1_000481 - PubMed: Nilbert 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - - ? - United States;Korea;Finland - - - - - 1 Rolf Sijmons
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Takahashi 2007 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A 1317G>A - MLH1_000481 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 - Gabriel Capellá and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - CRC - - MLH1 Methylation: Not methylated; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013592; F - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 - Noralane Lindor and Steve Thibodeau - - Germline - - - - - DNA SEQ - - ? - - no FH (CRC age 65, segregation LR 0.0001 - Cunningham 2001, [CCFR Mayo]) - - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 - Noralane Lindor and Steve Thibodeau - - Germline - - - - - DNA SEQ - - ? - - 1 family with segregation LR 0.0003 - - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 - Noralane Lindor and Steve Thibodeau - - Germline - - - - - DNA SEQ - - CRC - - - - - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 Variant Allele: Paternal confirmed Alessandra Viel - - Germline - - - - - DNA SSCA - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 N. 8 adenomas Alessandra Viel - - Germline - - - - - DNA SEQ - - ? - - no family history M - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 - Alessandra Viel - - Germline - - - - - DNA SEQ, MLPA - - CRC - - - M - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A Exon 12 1217G>A p.Ser406Asn UCV - MLH1_000481 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown - VUS g.37067306G>A g.37025815G>A Het: 1217G>A (p.Ser406Asn) - MLH1_000481 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - BRAF negative;InSiGHT LOVDv2 ID:1016339; - - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 found 1 out of 150 Italian control individuals Maurizio Genuardi - - Germline - - - - - DNA SEQ, MLPA - - CRC - - MLH1 Methylation: negative; Method: MS-MLPA; Last known age healthy/unknown disease: 74;InSiGHT LOVDv2 ID:1016773; F - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 variant allele: Maternal Confirmed Maurizio Genuardi - - Germline - - - - - DNA SEQ - - cancer, rectal - - Last known age healthy/unknown disease: 47;InSiGHT LOVDv2 ID:1016774; F - - - - - - - 1 INSiGHT group
?/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - VUS g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 variant allele: Paternal Inferred. MSH2:c.1165C>T, p.Arg389* that segregates with phenotype Maurizio Genuardi - - Germline - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 INSiGHT group
-?/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - likely benign g.37067306G>A g.37025815G>A - - MLH1_000481 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 cancer, breast - - Maternal aunt (70, dec.) had Breast Cancer at 50 years old F - - - - - - - 1 Jack Ji
-?/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - likely benign g.37067306G>A g.37025815G>A - - MLH1_000481 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 cancer, breast - - Sister (42, dec.) had Breast Cancer at 42 years old; Maternal aunt (90 or older, dec.) had Breast Cancer at 55 years old; Maternal grandfather (86, dec.) had Lung Cancer at 70 years old F - - - - - - - 1 Jack Ji
-?/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - likely benign g.37067306G>A g.37025815G>A - - MLH1_000481 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Paternal grandmother (60, dec.) had Breast Cancer at 58 years old M - - - - - - - 1 Jack Ji
-/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - benign g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915}, {PMID:Andersen Hum Mutat. 2012 Dec;33(12):1647-55.:22753075} - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - benign g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - benign g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 12 c.1217G>A r.(?) p.Ser406Asn Unknown - benign g.37067306G>A g.37025815G>A 1217G>A - MLH1_000481 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-?/. 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown - likely benign g.37067306G>A g.37025815G>A - - MLH1_000481 - - - - Germline - - - - - DNA SEQ - screen data 2008-01-01 ? - - - M - United Kingdom (Great Britain) - - - - - 1 InSiGHT - John-Paul Plazzer
-/. - c.1217G>A r.(?) p.Ser406Asn Unknown - benign g.37067306G>A g.37025815G>A p.Ser406Asn+MSH2 p.Arg369* - MLH1_000481 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1217G>A r.(?) p.Ser406Asn Unknown - benign g.37067306G>A g.37025815G>A - - MLH1_000481 Control frequency on 160 Italian control chr: 0.00333 PubMed: Tricarico 2017 - - Germline - 0.00333 - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown - NA g.37067306G>A g.37025815G>A - - MLH1_000481 no effect on RNA PubMed: Tricarico 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - NA g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - NA g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - NA g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - NA g.37067306G>A g.37025815G>A - - MLH1_000481 Authors describe this as non-pathogenic and can be associated, not associated or questionably association with HNPCC. NOTE: Functional assay was done on the corresponding yeast allele S415N. PubMed: Wanat 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - NA g.37067306G>A g.37025815G>A - - MLH1_000481 - PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - NA g.37067306G>A g.37025815G>A - - MLH1_000481 - PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.1217G>A r.(=) p.(Ser406Asn) Unknown - NA g.37067306G>A g.37025815G>A S406N - MLH1_000481 {GR:95} PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1217G>A r.(?) p.Ser406Asn Unknown - NA g.37067306G>A g.37025815G>A - - MLH1_000481 mRNA assay (splicing analysis and SNUPE assay,2015): no effect PubMed: Tricarico 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1217G>A r.(?) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A MLH1(NM_000249.3):c.1217G>A (p.S406N, p.(Ser406Asn)), MLH1(NM_000249.4):c.1217G>A (p.S406N) - MLH1_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1217G>A r.(?) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A MLH1(NM_000249.3):c.1217G>A (p.S406N, p.(Ser406Asn)), MLH1(NM_000249.4):c.1217G>A (p.S406N) - MLH1_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1217G>A r.(?) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A MLH1(NM_000249.3):c.1217G>A (p.S406N, p.(Ser406Asn)), MLH1(NM_000249.4):c.1217G>A (p.S406N) - MLH1_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.1217G>A r.(?) p.(Ser406Asn) Unknown - benign g.37067306G>A g.37025815G>A - - MLH1_000481 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 12 c.1217G>A r.1217g>a p.(Ser406Asn) Unknown - NA g.37067306G>A - - - MLH1_000481 Minigene splicing assay (pCAS2.MLH1.ex12): No splicing defect detected; Splicing predictions (MaxEntScan, SpliceSiteFinder-Like, SpliceAI): ΔMES= n.a. ΔSSFL= n.a. SpliceAI: no splicing defect predicted PubMed: Tricarico et al 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1217G>A r.(?) p.(Ser406Asn) Unknown - benign g.37067306G>A - MLH1(NM_000249.3):c.1217G>A (p.S406N, p.(Ser406Asn)), MLH1(NM_000249.4):c.1217G>A (p.S406N) - MLH1_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1217G>A r.(?) p.(Ser406Asn) Unknown - benign g.37067306G>A - MLH1(NM_000249.3):c.1217G>A (p.S406N, p.(Ser406Asn)), MLH1(NM_000249.4):c.1217G>A (p.S406N) - MLH1_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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