Full data view for gene MSH6


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.3646+91T>C benign r.(=) p.(=) Unknown g.48032937T>C - MSH6(NM_000179.2):c.3646+91T>C (p.?) - MSH6_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3646+91T>C benign r.(=) p.(=) Unknown g.48032937T>C - MSH6(NM_000179.2):c.3646+91T>C (p.?) - MSH6_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 7i c.3646+91T>C benign r.(=) p.(=) Unknown g.48032937T>C - - - MSH6_000249 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 7i c.3646+91T>C benign r.(?) p.(=) Both (homozygous) g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 7i c.3646+91T>C VUS r.(=) p.(=) Parent #1 g.48032937T>C - c>t at 3646+87; described as +87A - MSH6_000249 - PubMed: Plaschke 2000 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Plaschke 2000 healthy donors - - - - - 0 - - 1 INSiGHT group
?/. 7i c.3646+91T>C VUS r.(=) p.(=) Parent #1 g.48032937T>C - c>t at 3646+87 - MSH6_000249 - PubMed: Kolodner 1999 - - Germline - - - 0 - DNA SEQ - - ?, CRC - PubMed: Kolodner 1999 - ? - - - - 0 - - 1 INSiGHT group
?/. 7i c.3646+91T>C VUS r.(=) p.(=) Unknown g.48032937T>C - +87A - MSH6_000249 - PubMed: Peterlongo 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 7i c.3646+91T>C VUS r.(=) p.(=) Unknown g.48032937T>C - +87A - MSH6_000249 - PubMed: Cederquist 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-?/. 7i c.3646+91T>C likely benign r.(=) p.(=) Unknown g.48032937T>C - - - MSH6_000249 - PubMed: Nilbert 2008 - - Germline - - - 0 - DNA SEQ - - CRC - - - - - Denmark Danish - 0 - - 1 Michael Woods
?/. 7i c.3646+91T>C VUS r.(?) p.? Unknown g.48032937T>C - 3646+91T>C - MSH6_000249 WT MaxEntScan score: not determined; Variant MaxEntScan score: not determined; Difference in MaxEntScan score between variant and WT (%): not determined PubMed: Rossi 2017 - - Germline - - - 0 - DNA ? - - ? - PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Argentina - - 0 - - 1 Mev Dominguez Valentin
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