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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

26 entries on 1 page. Showing entries 1 - 26.
Legend   How to query  

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     
-/- 1i c.260+22C>G r.(=) p.(=) Unknown - benign g.48010654C>G g.47783515C>G - - MSH6_000013 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1i c.260+22C>G r.(?) p.(=) Parent #1 - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1i c.260+22C>G r.(?) p.(=) Parent #1 - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1i c.260+22C>G r.(?) p.(=) Parent #1 - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1i c.260+22C>G r.(?) p.(=) Both (homozygous) - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1i c.260+22C>G r.(?) p.(=) Parent #1 - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1i c.260+22C>G r.(?) p.(=) Parent #1 - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1i c.260+22C>G r.(?) p.(=) Both (homozygous) - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1i c.260+22C>G r.(?) p.(=) Parent #1 - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1i c.260+22C>G r.(?) p.(=) Parent #1 - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 1i c.260+22C>G r.(=) p.(=) Parent #1 - VUS g.48010654C>G g.47783515C>G c>g at 260+22 - MSH6_000013 - PubMed: Plaschke 2000 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Plaschke 2000 healthy donors - - - - - 0 - - 1 INSiGHT group
?/. 1i c.260+22C>G r.(=) p.(=) Parent #1 - VUS g.48010654C>G g.47783515C>G c>g at 260+22 - MSH6_000013 - PubMed: Kolodner 1999 - - Germline - - - 0 - DNA SEQ - - ?, CRC - PubMed: Kolodner 1999 - ? - - - - 0 - - 1 INSiGHT group
?/. 1i c.260+22C>G r.(=) p.(=) Unknown - VUS g.48010654C>G g.47783515C>G - - MSH6_000013 - PubMed: Peterlongo 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1i c.260+22C>G r.(=) p.(=) Unknown - VUS g.48010654C>G g.47783515C>G - - MSH6_000013 - PubMed: Woods 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1i c.260+22C>G r.(=) p.(=) Unknown - VUS g.48010654C>G g.47783515C>G 260+22C>G - MSH6_000013 - Kristina Lagerstedt Robinson - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
?/. 1i c.260+22C>G r.(=) p.(=) Unknown - VUS g.48010654C>G g.47783515C>G - - MSH6_000013 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
?/. 1i c.260+22C>G r.(=) p.(=) Unknown - VUS g.48010654C>G g.47783515C>G - - MSH6_000013 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
-?/. 1i c.260+22C>G r.(=) p.(=) Unknown - likely benign g.48010654C>G g.47783515C>G - - MSH6_000013 - - - - Germline - - - 0 - DNA SEQ - - CRC - - - M - Estonia - - 0 - - 1 Dana Falcone
-/. - c.260+22C>G r.(=) p.(=) Unknown - benign g.48010654C>G g.47783515C>G MSH6(NM_000179.2):c.260+22C>G - MSH6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.260+22C>G r.(=) p.(=) Unknown - benign g.48010654C>G g.47783515C>G MSH6(NM_000179.2):c.260+22C>G - MSH6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.260+22C>G r.(?) p.(=) Unknown - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - - - - Germline - - - 0 - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - 0 - - 1 Carlos Vaccaro
?/. 4 c.3142C>T r.(?) p.(Gln1048*) Unknown - VUS g.48028264C>T g.47801125C>T - - MSH6_000013 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3142C>T r.(?) p.Gln1048* Unknown - pathogenic g.48028264C>T g.47801125C>T disruptive variant - MSH6_000013 - PubMed: Baert-Desurmont 2018 - - Germline - - - 0 - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - 0 - - 1 Stephanie Baert-Desurmont
+/. 4 c.3142C>T r.(?) p.(Gln1048*) Unknown - pathogenic g.48028264C>T g.47801125C>T - - MSH6_000013 Nonsense Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 - - Germline ? - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.3142C>T r.(?) p.(Gln1048*) Unknown - pathogenic g.48028264C>T g.47801125C>T - - MSH6_000013 ICCON data, Prince of Wales Hospital, NSW - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.3142C>T r.(?) p.(Gln1048*) Unknown - pathogenic g.48028264C>T g.47801125C>T - - MSH6_000013 - - - - Germline/De novo (untested) - Not on gnomAD - 0 - DNA SEQ - year test performed: 2011 CRC - - - F - (United Kingdom (Great Britain)) - - 0 - - 1 Treena Cranston
Legend   How to query