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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

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?/? 4 c.1754T>C r.(?) p.(Leu585Pro) Unknown - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 Insight class: 3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Maternal (confirmed) - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 - PubMed: Kantelinen 2012 - - Germline - - - - - DNA PCR - - CRC - - - M - - European white - - - - 1 Betsy Smith
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Maternal (inferred) - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 - - - - Germline - - - - - DNA arraySEQ - - cancer, endometrial - - - F - Cuba Hispanic - - - - 1 Rachel Silva-Smith
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Unknown - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 Founder mutation; Carrier frequency in Iceland: 0.080% - Odds ratio for colorectal cancer 10.1 (5.1-20.1); endometrial cancer 32.8 (13.5-80.0); brain cancer (glioma) 8.9 (2.2-36.2) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Unknown - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 Founder mutation; Carrier frequency in Iceland: 0.080% - Odds ratio for colorectal cancer 10.1 (5.1-20.1); endometrial cancer 32.8 (13.5-80.0); brain cancer (glioma) 8.9 (2.2-36.2) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - WGS, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Unknown - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 Founder mutation; Carrier frequency in Iceland: 0.080% - Odds ratio for colorectal cancer 10.1 (5.1-20.1); endometrial cancer 32.8 (13.5-80.0); brain cancer (glioma) 8.9 (2.2-36.2) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Unknown - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 Founder mutation; Carrier frequency in Iceland: 0.080% - Odds ratio for colorectal cancer 10.1 (5.1-20.1); endometrial cancer 32.8 (13.5-80.0); brain cancer (glioma) 8.9 (2.2-36.2) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Unknown - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 Founder mutation; Carrier frequency in Iceland: 0.080% - Odds ratio for colorectal cancer 10.1 (5.1-20.1); endometrial cancer 32.8 (13.5-80.0); brain cancer (glioma) 8.9 (2.2-36.2) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Unknown - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 Founder mutation; Carrier frequency in Iceland: 0.080% - Odds ratio for colorectal cancer 10.1 (5.1-20.1); endometrial cancer 32.8 (13.5-80.0); brain cancer (glioma) 8.9 (2.2-36.2) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Unknown - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 Founder mutation; Carrier frequency in Iceland: 0.080% - Odds ratio for colorectal cancer 10.1 (5.1-20.1); endometrial cancer 32.8 (13.5-80.0); brain cancer (glioma) 8.9 (2.2-36.2) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - F - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Unknown - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 Founder mutation; Carrier frequency in Iceland: 0.080% - Odds ratio for colorectal cancer 10.1 (5.1-20.1); endometrial cancer 32.8 (13.5-80.0); brain cancer (glioma) 8.9 (2.2-36.2) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - F - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/. 4 c.1754T>C r.(?) p.(Leu585Pro) Unknown - VUS g.48026876T>C g.47799737T>C - - MSH6_000781 Founder mutation; Carrier frequency in Iceland: 0.080% - Odds ratio for colorectal cancer 10.1 (5.1-20.1); endometrial cancer 32.8 (13.5-80.0); brain cancer (glioma) 8.9 (2.2-36.2) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - F - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/. - c.1754T>C r.(?) p.Leu585Pro Unknown - VUS g.48026876T>C g.47799737T>C missense variants or in frame indels - MSH6_000781 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
?/. - c.1754T>C r.(?) p.(Leu585Pro) Parent #1 - NA g.48026876T>C - chr2_48026876_T_C - MSH6_000781 not in 60466 cases; 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 - 1/53461 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 - 1 BRIDGES consortium
+/. - c.1754T>C r.(?) p.(Leu585Pro) Unknown - pathogenic g.48026876T>C - - - MSH6_000781 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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