Full data view for gene MSH6


MSH6 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000179.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.663A>C r.(?) p.(Glu221Asp) Unknown - likely benign g.48025785A>C g.47798646A>C MSH6(NM_000179.2):c.663A>C (p.E221D, p.(Glu221Asp)), MSH6(NM_000179.3):c.663A>C (p.E221D) - MSH6_000929 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C - - MSH6_000929 Insight class: 3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Parent #1 - VUS g.48025785A>C g.47798646A>C - - MSH6_000929 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C - - MSH6_000929 - - - - Germline - - - - - DNA MLPA, SEQ - screen data 2013-01-01 HNPCC (Lynch) - - No FH of CRC F - - - - - - - 1 Ruth Armstrong
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Parent #1 - VUS g.48025785A>C g.47798646A>C - - MSH6_000929 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C - - MSH6_000929 - PubMed: Devlin 2008 - - Germline - - - - - DNA ? - - cancer, endometrial - - - F - - - - - - - 1 Michael Woods
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Parent #1 - VUS g.48025785A>C g.47798646A>C - - MSH6_000929 - - - - Germline - - - - - DNA DGGE, SEQ - - CRC - - - - - Netherlands - - - - - 1 Rolf Sijmons
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C - - MSH6_000929 - - - - Germline - - - - - DNA SEQ - - CRC - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C - - MSH6_000929 - - - - Germline - - - - - DNA SEQ - - CRC - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C 663A>C - MSH6_000929 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: methylation; Method: MS-MLPA; InSiGHT LOVDv2 ID:1016860; M - - - - - - - 1 INSiGHT group
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C - - MSH6_000929 - - - - Germline - - - - - DNA SEQ-NG-I - Other genes screened: BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, screen date 2017-05-16 ? - - - F - Australia - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C MSH2:1017_1018del + MSH6:663A>C - MSH6_000929 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - - M - - - - - - - 1 INSiGHT group
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C - - MSH6_000929 - - - - Germline - - - - - DNA ? - - CRC, cancer, endometrial - - Bristol F - United Kingdom (Great Britain) - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 4 c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C 663A>C - MSH6_000929 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
?/. 4 c.663A>C r.(?) p.Glu221Asp Unknown - VUS g.48025785A>C g.47798646A>C 663A>C - MSH6_000929 WT MaxEntScan score: 10.87; Variant MaxEntScan score: 10.87; Difference in MaxEntScan score between variant and WT (%): 0 InSiGHT, PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Uruguay;Argentina - - - - - 2 Mev Dominguez Valentin
?/. - c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C variant reported as 633A>C but this does not match to reference sequence, protein change and rs41557217. - MSH6_000929 - PubMed: Schneider 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Schneider 2018 - - - Brazil - - - - - 1 InSiGHT - John-Paul Plazzer
-?/. - c.663A>C r.(?) p.(Glu221Asp) Unknown - likely benign g.48025785A>C g.47798646A>C MSH6(NM_000179.2):c.663A>C (p.E221D, p.(Glu221Asp)), MSH6(NM_000179.3):c.663A>C (p.E221D) - MSH6_000929 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.663A>C r.(?) p.(Glu221Asp) Unknown - VUS g.48025785A>C g.47798646A>C MSH6(NM_000179.2):c.663A>C (p.E221D, p.(Glu221Asp)), MSH6(NM_000179.3):c.663A>C (p.E221D) - MSH6_000929 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.663A>C r.(?) p.(Glu221Asp) Unknown - likely benign g.48025785A>C g.47798646A>C MSH6(NM_000179.2):c.663A>C (p.E221D, p.(Glu221Asp)), MSH6(NM_000179.3):c.663A>C (p.E221D) - MSH6_000929 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.663A>C r.(?) p.(Glu221Asp) Unknown - likely benign g.48025785A>C g.47798646A>C MSH6(NM_000179.2):c.663A>C (p.E221D, p.(Glu221Asp)), MSH6(NM_000179.3):c.663A>C (p.E221D) - MSH6_000929 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.663A>C r.(?) p.(Glu221Asp) Unknown - likely benign g.48025785A>C g.47798646A>C MSH6(NM_000179.2):c.663A>C (p.E221D, p.(Glu221Asp)), MSH6(NM_000179.3):c.663A>C (p.E221D) - MSH6_000929 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.663A>C r.(?) p.(Glu221Asp) Parent #1 - NA g.48025785A>C - chr2_48025785_A_C - MSH6_000929 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 - 93/60466 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 - 93 BRIDGES consortium
?/. - c.663A>C r.(?) p.(Glu221Asp) Parent #1 - NA g.48025785A>C - chr2_48025785_A_C - MSH6_000929 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 - 76/53461 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 - 76 BRIDGES consortium
-?/. - c.663A>C r.(?) p.(Glu221Asp) Unknown - likely benign g.48025785A>C - MSH6(NM_000179.2):c.663A>C (p.E221D, p.(Glu221Asp)), MSH6(NM_000179.3):c.663A>C (p.E221D) - MSH6_000929 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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