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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

67 entries on 1 page. Showing entries 1 - 67.
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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.276A>G r.(?) p.(Pro92=) Unknown - benign g.48018081A>G g.47790942A>G MSH6(NM_000179.2):c.276A>G (p.P92=), MSH6(NM_000179.3):c.276A>G (p.P92=) - MSH6_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.276A>G r.(?) p.(Pro92=) Unknown - benign g.48018081A>G g.47790942A>G MSH6(NM_000179.2):c.276A>G (p.P92=), MSH6(NM_000179.3):c.276A>G (p.P92=) - MSH6_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.276A>G r.(?) p.(Pro92=) Unknown - benign g.48018081A>G g.47790942A>G MSH6(NM_000179.2):c.276A>G (p.P92=), MSH6(NM_000179.3):c.276A>G (p.P92=) - MSH6_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.276A>G r.(?) p.(Pro92=) Unknown - benign g.48018081A>G g.47790942A>G MSH6(NM_000179.2):c.276A>G (p.P92=), MSH6(NM_000179.3):c.276A>G (p.P92=) - MSH6_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.276A>G r.(?) p.(Pro92=) Unknown - benign g.48018081A>G g.47790942A>G MSH6(NM_000179.2):c.276A>G (p.P92=), MSH6(NM_000179.3):c.276A>G (p.P92=) - MSH6_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.276A>G r.(?) p.(Pro92=) Parent #1 - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.276A>G r.(?) p.(Pro92=) Parent #1 - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.276A>G r.(?) p.(Pro92=) Parent #1 - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.276A>G r.(?) p.(Pro92=) Parent #1 - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.276A>G r.(?) p.(Pro92=) Both (homozygous) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.276A>G r.(?) p.(Pro92=) Parent #1 - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.276A>G r.(?) p.(Pro92=) Parent #1 - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.276A>G r.(?) p.(Pro92=) Both (homozygous) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.276A>G r.(?) p.(Pro92=) Parent #1 - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.276A>G r.(?) p.(Pro92=) Parent #1 - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Parent #1 - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Kolodner 1999 - - Germline - - - - - DNA SEQ - - ? - PubMed: Kolodner 1999 healthy controls - - - - - - - - 1 INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) Parent #1 - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Plaschke 2000 - - Germline - - - - - DNA SEQ - - ? - PubMed: Plaschke 2000 healthy donors - - - - - - - - 1 INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) Parent #1 - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Nicolaides 1996 - - Germline - - - - - DNA SEQ - - ? - PubMed: Nicolaides 1996 - ? - - - - - - - 1 INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Song 2006 - - Germline - - - - - DNA ? - - cancer, ovarian - - - F - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Verma 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Charames 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G G>A - MSH6_000920 - PubMed: Parc 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Peterlongo 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Lucci-Cordisco 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Cederquist 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Vahteristo 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Woods 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Hegde 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Sanchez de Abajo 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Perez-Cabornero 2009 - - Germline - - - - - DNA HD, SEQ - - ? - - - - - Spain - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G Dx bowel ca 40yrs, IHC absent MSH6. Austin clinicHet for seq variants: 116G>A, 186C>A, 276A>G, 540T>C, 3438+14A>T. - MSH6_000920 - Desiree du Sart - - Germline - - - - - DNA ? - - CRC - - - - - - - - - - - 1 INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G MSH2 MLPA (10/10/07) sequencing (10/10/07).Four heterozygous variants 186C>A (p.R62R), 276A>G (p.P92P), 540T>C (p.D180D) and 3438+14A>T. - MSH6_000920 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G Variants: Three heterozygous 186C>A (p.R62R), 276A>G (p.P92P), 540T>C (p.D180D) and homozygous 3438+14A>T. - MSH6_000920 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G Fhx bowel Ca.MSH2 seq &mlpa reported: 11/12/2008MSH6 polys (het): 186C>A, 276A>G, 540T>C, 3438+14A>T. - MSH6_000920 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) Parent #1 - VUS g.48018081A>G g.47790942A>G p.Pro92Pro - MSH6_000920 - PubMed: Zidan 2007 - - Germline - - - - - DNA MLPA - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) Unknown - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-?/. 2 c.276A>G r.(=) p.(=) Unknown - likely benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - - CRC - - - M - Estonia - - - - - 1 Dana Falcone
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Father (79) had Pancreatic Cancer at 75 years old F - - - - - - - 1 Jack Ji
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Maternal grandfather (90 or older, dec.) had Melanoma at 70 years old F - - - - - - - 1 Jack Ji
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - Paternal aunt (60, dec.) had Breast Cancer at 50 years old; Father (70) had Colorectal Cancer at 60 years old; Father (70) had Melanoma at 65 years old F - - - - - - - 1 Jack Ji
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - - F - - - - - - - 1 Jack Ji
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - Mother (87) had Merkel Cell Carcinoma at 64 years old; Maternal uncle (84) had Prostate Cancer at 77 years old; Maternal uncle (72, dec.) had Lung at 72 years old; Paternal grandfather (80, dec.) had Lung at 79 years old F - - - - - - - 1 Jack Ji
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Mother (66) had Breast Cancer at 30 years old; Maternal aunt (58, dec.) had Colon at 56 years old F - - - - - - - 1 Jack Ji
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Father (83, dec.) had Prostate Cancer at 75 years old F - - - - - - - 1 Jack Ji
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 CRC - - Maternal grandmother (80, dec.) had Breast Cancer at 78 years old; Maternal grandmother (80, dec.) had Colorectal Cancer at 78 years old; Maternal uncle (57) had Prostate Cancer at 55 years old; Maternal uncle (48, dec.) had Colorectal Cancer at 45 years old; Father (62, dec.) had Prostate Cancer at 62 years old F - - - - - - - 1 Jack Ji
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 CRC - - Brother (58) had Colorectal Cancer at 35 years old; Brother (65) had Colorectal Cancer at 54 years old; Brother (67, dec.) had Colorectal Cancer at 65 years old; Father (55, dec.) had Colorectal Cancer at 54 years old M - - - - - - - 1 Jack Ji
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - 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
-/. 2 c.276A>G r.(=) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Mother (76) had Breast Cancer at 52 years old; Mother (76) had Bone Marrow at 70 years old; Father (79) had Prostate at 68 years old F - - - - - - - 1 Jack Ji
-/. - c.276A>G r.(?) p.(=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Thodi 2010 - - Germline - - - - - DNA ? - - ? - PubMed: Thodi 2010 - - - Greece - - - - - 2 InSiGHT - John-Paul Plazzer
-/. - c.276A>G r.(?) p.(Pro92=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. 2 c.276A>G r.(?) p.(Pro92=) Unknown - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
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