OMIA:002160-9544 : Colorectal cancer, hereditary nonpolyposis, MSH6-related in Macaca mulatta
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 614350 (trait) , 600678 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2018
Cross-species summary: Lynch syndrome; HNPCC5
Molecular basis: Dray et al. (2018) reported a likely causal variant as a "missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene)". These authors did not actually provide any details on the variant.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MSH6||mutS homolog 6||Macaca mulatta||13||NC_041766.1 (60995316..60969418)||MSH6||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1015||Colorectal cancer, hereditary nonpolyposis, MSH6-related||MSH6||missense||Naturally occurring variant||Dray et al. (2018): "a heterozygous missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene"||2018||30108684|
|2018||Dray, B.K., Raveendran, M., Harris, R.A., Benavides, F., Gray, S.B., Perez, C.J., McArthur, M.J., Williams, L.E., Baze, W.B., Doddapaneni, H., Muzny, D.M., Abee, C.R., Rogers, J. :|
|Mismatch repair gene mutations lead to lynch syndrome colorectal cancer in rhesus macaques. Genes Cancer 9:142-152, 2018. Pubmed reference: 30108684 . DOI: 10.18632/genesandcancer.170.|
- Changed by Frank Nicholas on 21 Sep 2018
- Created by Frank Nicholas on 21 Sep 2018