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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

20 entries on 1 page. Showing entries 1 - 20.
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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     

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Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 4 c.742C>T r.(?) p.(Arg248*) Unknown - pathogenic g.48025864C>T g.47798725C>T - - MSH6_000059 Insight class: 5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.742C>T r.(?) p.(Arg248*) Unknown - pathogenic g.48025864C>T g.47798725C>T - - MSH6_000059 - PubMed: Wijnen 1999,PubMed: Hendriks 2003,PubMed: Hendriks 2004 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wijnen,J. 1999, PubMed: Hendriks, Y.2003, PubMed: Hendriks,Y.M. 2004 - ? - Netherlands - - - - - 1 Juul Wijnen
+/. 4 c.742C>T r.(?) p.(Arg248*) Unknown - pathogenic g.48025864C>T g.47798725C>T - - MSH6_000059 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 4 c.742C>T r.(?) p.(Arg248*) Parent #1 - pathogenic g.48025864C>T g.47798725C>T - - MSH6_000059 - PubMed: Wijnen 1999 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wijnen 1999 - ? - Netherlands - - - - - 1 INSiGHT group
+/. 4 c.742C>T r.(?) p.(Arg248*) Unknown - pathogenic g.48025864C>T g.47798725C>T - - MSH6_000059 - PubMed: Hendriks 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 4 c.742C>T r.(?) p.(Arg248*) Unknown - pathogenic g.48025864C>T g.47798725C>T - - MSH6_000059 - PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 4 c.742C>T r.(?) p.(Arg248*) Unknown - pathogenic g.48025864C>T g.47798725C>T - - MSH6_000059 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 4 c.742C>T r.(?) p.(Arg248*) Unknown - pathogenic g.48025864C>T g.47798725C>T - - MSH6_000059 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 4 c.742C>T r.(?) p.(Arg248*) Unknown - pathogenic g.48025864C>T g.47798725C>T - - MSH6_000059 ICCON data, Prince of Wales Hospital, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.742C>T r.(?) p.(Arg248Ter) Unknown - pathogenic g.48025864C>T g.47798725C>T - - MSH6_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.742C>T r.(?) p.(Arg248*) Parent #1 - NA g.48025864C>T - chr2_48025864_C_T - MSH6_000059 not in 53461 controls; 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 - 1/60466 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 - 1 BRIDGES consortium
?/. 6_6i c.3554_3556+2del r.spl? p.Ser1185* Unknown - VUS g.48032164_48032168del g.47805025_47805029del - - MSH6_000059 - DUPLICATE – to be removed - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3554_3556+2del r.(?) p.(Ser1185_Gly1186delinsCys) Unknown - VUS g.48032164_48032168del g.47805025_47805029del Other - MSH6_000059 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
?/. - c.3554_3556+2del r.(?) p.(Ser1185_Gly1186delinsCys) Unknown - VUS g.48032164_48032168del g.47805025_47805029del Other - MSH6_000059 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. 6 c.3554_3556+2del r.spl? p.Ser1185* Unknown - pathogenic g.48032164_48032168del g.47805025_47805029del p.Ser1185_Gly1186delinsCys - MSH6_000059 RNA studies were performed to determine the effect of the genetic variant c.[3554_3556+2 delCAGGT]+[=]. PCR primers flanking the exon 6 and 7 boundary in the MSH6 gene were used to amplify cDNA that was reverse-transcribed from RNA. The amplified DNA was assessed by DNA sequencing. ; Analysis at the RNA level confirmed the deletion of the last three bases of exon 6 and the first two bases of exon 7. This introduces a stop codon at that position (p.Ser1185X) resulting in a truncated MSH6 protein. Based on current knowledge this splice-site mutation is considered pathogenic and predictive testing is available through the appropriate genetic service. - - - Germline - - - - - DNA ? - - HNPCC (Lynch) - - - - - Australia - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 6i c.3557-185C>T r.(?) p.(=) Parent #1 - VUS g.48032572C>T g.47805433C>T - - MSH6_000059 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 6i c.3557-185C>T r.(?) p.(=) Parent #1 - VUS g.48032572C>T g.47805433C>T - - MSH6_000059 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 6i c.3557-185C>T r.(?) p.(=) Parent #1 - VUS g.48032572C>T g.47805433C>T - - MSH6_000059 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 6i c.3557-185C>T r.(?) p.(=) Parent #1 - VUS g.48032572C>T g.47805433C>T - - MSH6_000059 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 6i c.3557-185C>T r.(?) p.(=) Unknown - VUS g.48032572C>T g.47805433C>T 3557-185C>T - MSH6_000059 WT MaxEntScan score: 10.29; Variant MaxEntScan score: 10.29; Difference in MaxEntScan score between variant and WT (%): 0 PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Argentina - - - - - 1 Mev Dominguez Valentin
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