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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

50 entries on 1 page. Showing entries 1 - 50.
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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.642C>T r.(?) p.(Tyr214=) Unknown - benign g.48025764C>T g.47798625C>T MSH6(NM_000179.2):c.642C>T (p.Y214=) - MSH6_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.642C>T r.(?) p.(Tyr214=) Unknown - benign g.48025764C>T g.47798625C>T MSH6(NM_000179.2):c.642C>T (p.Y214=) - MSH6_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.642C>T r.(?) p.(Tyr214=) Unknown - benign g.48025764C>T g.47798625C>T MSH6(NM_000179.2):c.642C>T (p.Y214=) - MSH6_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.642C>T r.(?) p.(Tyr214=) Unknown - benign g.48025764C>T g.47798625C>T MSH6(NM_000179.2):c.642C>T (p.Y214=) - MSH6_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 4 c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.642C>T r.(?) p.(Tyr214=) Parent #1 - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 4 c.642C>T r.(?) p.(Tyr214=) Parent #1 - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 4 c.642C>T r.(?) p.(Tyr214=) Parent #1 - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 4 c.642C>T r.(?) p.(Tyr214=) Parent #1 - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 4 c.642C>T r.(?) p.(Tyr214=) Parent #1 - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 4 c.642C>T r.(?) p.(Tyr214=) Parent #1 - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - PubMed: Wijnen 1999 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Wijnen,J. 1999 - ? - Netherlands - - 0 - - 1 Juul Wijnen
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - PubMed: Hendriks 2003 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Hendriks,Y. 2003 - ? - Netherlands - - 0 - - 1 Juul Wijnen
?/. 4 c.642C>T r.(=) p.(=) Parent #1 - VUS g.48025764C>T g.47798625C>T C>T at 642 - MSH6_000161 - PubMed: Kolodner 1999 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Kolodner 1999 healthy controls - - - - - 0 - - 1 INSiGHT group
?/. 4 c.642C>T r.(=) p.(=) Parent #1 - VUS g.48025764C>T g.47798625C>T C>T at 642 - MSH6_000161 - PubMed: Plaschke 2000 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Plaschke 2000 healthy donors - - - - - 0 - - 1 INSiGHT group
?/. 4 c.642C>T r.(=) p.(=) Parent #1 - VUS g.48025764C>T g.47798625C>T C>T at 642 - MSH6_000161 - PubMed: Wijnen 1999 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Wijnen 1999 - ? - - - - 0 - - 1 INSiGHT group
?/. 4 c.642C>T r.(=) p.(=) Parent #1 - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - ? - Germany - - 0 - - 1 Beate Dr. Betz
?/. 4 c.642C>T r.(=) p.(=) Parent #1 - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - ? - Germany - - 0 - - 1 Beate Dr. Betz
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - PubMed: Verma 1999 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - PubMed: Charames 2000 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T T>C - MSH6_000161 - PubMed: Parc 2000 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - PubMed: Peterlongo 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T T>C - MSH6_000161 - PubMed: Cederquist 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - PubMed: Vahteristo 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - PubMed: Woods 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - PubMed: Sanchez de Abajo 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - PubMed: Dovrat 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - PubMed: Perez-Cabornero 2009 - - Germline - - - 0 - DNA HD, SEQ - - ? - - - - - Spain - - 0 - - 1 Michael Woods
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
?/. 4 c.642C>T r.(=) p.(=) Unknown - VUS g.48025764C>T g.47798625C>T 211+9C>G (hom),1511-9A>T,1661+12G>A (het).MSH2 Seq &MLPA reported 22/04/09. 540T>C, 642C>T, 3438+14 MSH6 (all het) - MSH6_000161 - Desiree du Sart - - Germline - - - 0 - DNA ? - - ? - - c.211+9C>G (hom) & c.1511-9A>T and c.1661+12G>A (het).MSH2 Seq &MLPA reported 22/04/09c.540T>C, c.642C>T, c.3438+14 MSH6 (all het) - - - - - 0 - - 1 INSiGHT group
-/. - c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA ? - - cancer, endometrial - - - F - - - - 0 - - 1 INSiGHT group
-/. 4 c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - screen date 2015-01-01 ? - - Maternal grandmother (47, dec.) had Unk Brain? at 47 years old; Half-sister, mother (61, dec.) had Nsclc Egfr Positive at 58 years old; Brother (60) had Anaplastic Thyroid Ca at 47 years old; Father (65, dec.) had Nslc at 65 years old; Maternal uncle (65, dec.) had Lung Cancer at 64 years old; F - - - - 0 - - 1 Jack Ji
-/. 4 c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - screen date 2015-01-01 ? - - Mother (63, dec.) had Breast Cancer at 58 years old; Mother (63, dec.) had Fallopian Tube Cancer at 60 years old; Sister (60) had Breast Cancer at 54 years old F - - - - 0 - - 1 Jack Ji
-/. 4 c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 ? - - no family history F - - - - 0 - - 1 Jack Ji
-/. 4 c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - screen date 2016-01-01 ? - - Maternal grandmother (90 or older, dec.) had Colorectal Cancer at 85 years old; Paternal grandfather (87) had Lymphoma at 80 years old M - - - - 0 - - 1 Jack Ji
-/. 4 c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 ? - - Mother (74, dec.) had Breast Cancer at 65 years old; Mother (74, dec.) had Colorectal Cancer at 72 years old; Mother (74, dec.) had Primary Peritoneal Cancer at 71 years old; Sister (50, dec.) had Breast Cancer at 38 years old; Sister (66) had Kidney Cancer at 65 years old; Sister (66) had Thymoma at 65 years old; Sister (66) had Ovarian Cancer at 65 years old; Maternal grandfather (71, dec.) had Gastric Cancer at 70 years old; Paternal grandfather (83, dec.) had Breast Cancer at 65 years old; Brother (71) had Colorectal Cancer at 57 years old; Brother (71) had Bladder at 68 years old; Brother (71) had Prostate Cancer at 50 years old; Sister (66) has a mutation in KRAS F - - - - 0 - - 1 Jack Ji
-/. 4 c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 cancer, skin - - Maternal grandmother (50, dec.) had Pancreatic Cancer at 49 years old; Sister (63) had Hodgkins Lymphoma at 56 years old; Maternal aunt (78, dec.) had Breast Cancer at 77 years old; Paternal aunt (80, dec.) had Gastric Cancer at 79 years old; Mother (82, dec.) had Breast Cancer at 73 years old; Mother (82, dec.) had Non Hodgkin Lymphoma at 70 years old; Sister (62) had Basal Cell Carcinoma at 50 years old; Maternal uncle (79, dec.) had Gastric Cancer at 78 years old; Brother (65) had Type Of Blood Cancer at 63 years old; Sister (66) has a mutation in BRCA2; Sister (66) has a mutation in BRCA1 F - - - - 0 - - 1 Jack Ji
-/. 4 c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 ? - - Mother (69) had Thyroid Cancer at 55 years old; Paternal uncle (55, dec.) had Unknown at 50 years old; Paternal uncle (59, dec.) had Unknown at 55 years old; Father (69, dec.) had Unknown at 62 years old F - - - - 0 - - 1 Jack Ji
-/. 4 c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - screen date 2015-01-01 ? - - Mother (81, dec.) had Pancreatic Cancer at 81 years old; Sister (57) had Breast Cancer at 49 years old; Brother (60) had Skin at 54 years old; Sister (57) has a mutation in of undetermined signficance F - - - - 0 - - 1 Jack Ji
-/. 4 c.642C>T r.(=) p.(=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 cancer, skin - - Mother (84, dec.) had All Over Abdomen When They Found It at 84 years old; Maternal grandmother (40, dec.) had Stomach ? at 40 years old; Paternal grandmother (42, dec.) had Breast Cancer at 27 years old; Sister (59) had Colorectal Cancer at 55 years old; Maternal aunt (78, dec.) had Breast Cancer at 50 years old; Maternal aunt (78, dec.) had Colorectal Cancer at 60 years old; Paternal aunt (78, dec.) had Breast Cancer at 48 years old; Paternal uncle (70, dec.) had Lung at 68 years old; Paternal uncle (65, dec.) had Kidney Cancer at 65 years old; Paternal uncle (65, dec.) had Liver at 65 years old; Father (82, dec.) had Colorectal Cancer at 80 years old; Maternal grandfather (82, dec.) had Bone Spine? at 78 years old; Paternal uncle (73, dec.) had Colorectal Cancer at 50 years old F - - - - 0 - - 1 Jack Ji
-/. - c.642C>T r.(?) p.(Tyr214=) Unknown - benign g.48025764C>T g.47798625C>T MSH6(NM_000179.2):c.642C>T (p.Y214=) - MSH6_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.642C>T r.(?) p.(Tyr214=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - 0 - - 1 Carlos Vaccaro
-/. 4 c.642C>T r.(?) p.(Tyr214=) Unknown - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina - - 0 - - 1 Maximiliano Zeballos
-/. - c.642C>T r.(?) p.(Tyr214=) Unknown - benign g.48025764C>T - MSH6(NM_000179.2):c.642C>T (p.Y214=) - MSH6_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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