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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

13 entries on 1 page. Showing entries 1 - 13.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-448G>A r.(=) p.(=) Parent #1 - benign g.48009925G>A g.47782786G>A - - MSH6_000591 found homozygeous; c.-159C>T und c.-448G>A - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/- 1 c.-448G>A r.(=) p.(=) Unknown - benign g.48009925G>A g.47782786G>A - - MSH6_000591 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-448G>A r.(=) p.(=) Unknown - VUS g.48009925G>A g.47782786G>A - - MSH6_000591 Functional studies indicate Inactivation of two splice1 sites; Authors describe this as a polymorphism PubMed: Gazzoli 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/. - c.59C>T r.(?) p.(Ala20Val) Parent #1 - benign g.48010431C>T g.47783292C>T - - MSH6_000591 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.59C>T r.(?) p.(Ala20Val) Unknown - likely benign g.48010431C>T g.47783292C>T MSH6(NM_000179.2):c.59C>T (p.(Ala20Val), p.A20V) - MSH6_000591 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.59C>T r.(?) p.(Ala20Val) Unknown - likely benign g.48010431C>T g.47783292C>T - - MSH6_000591 Insight class: 2 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.59C>T r.(?) p.(Ala20Val) Unknown - VUS g.48010431C>T g.47783292C>T - - MSH6_000591 - PubMed: Charames 2000 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.59C>T r.(?) p.(Ala20Val) Unknown - VUS g.48010431C>T g.47783292C>T - - MSH6_000591 - PubMed: Nilbert 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.59C>T r.(?) p.(Ala20Val) Unknown - VUS g.48010431C>T g.47783292C>T 59C>T - MSH6_000591 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.59C>T r.(?) p.(Ala20Val) Unknown - VUS g.48010431C>T g.47783292C>T 59C>T - MSH6_000591 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.59C>T r.(?) p.(Ala20Val) Unknown - NA g.48010431C>T g.47783292C>T 59C>T - MSH6_000591 MMR activity Drost Hum Mutat 2012 33: 488-494. - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.59C>T r.(?) p.(Ala20Val) Unknown - likely benign g.48010431C>T g.47783292C>T MSH6(NM_000179.2):c.59C>T (p.(Ala20Val), p.A20V) - MSH6_000591 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59C>T r.(?) p.(Ala20Val) Unknown - likely benign g.48010431C>T - MSH6(NM_000179.2):c.59C>T (p.(Ala20Val), p.A20V) - MSH6_000591 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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