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Gene Symbol MSH6
Synonyms GTBP | GTMBP | HNPCC5 | HSAP | p160
Gene Description MSH6, mutS homolog 6, binds with Msh2 to form the MutS-alpha complex, which functions in initiation of the DNA mismatch repair system (PMID: 23391514) and is associated with microsatellite instability (MSI) (PMID: 30121009). Mutations in MSH6 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 20028993), and germline MSH6 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792).
ACMG Incidental List v2.0:
Yes, Lynch syndrome (PMID: 27854360)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function MSH6 inact mut indicates that this variant results in a loss of function of the Msh6 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown MSH6 mutant indicates an unspecified mutation in the MSH6 gene.
D1171fs frameshift loss of function - predicted MSH6 D1171fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1171 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). D1171fs (reported as D1171fs*5) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
E544fs frameshift loss of function - predicted MSH6 E544fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 397 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). E544fs (reported as E544fs*26) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
F1088fs frameshift unknown MSH6 F1088fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1088 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). F1088fs has been identified in the scientific literature (PMID: 29571084), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Mar 2020).
F573fs frameshift loss of function - predicted MSH6 F573fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 573 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss several known functional domains, including the ATPase domain (PMID: 23391514), F573fs is predicted to lead to a loss of Msh6 protein function.
I1109fs frameshift loss of function - predicted MSH6 I1109fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1109 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). I1109fs (reported as I1109fs*3) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
I872fs frameshift loss of function - predicted MSH6 I872fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 872 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). (UniProt.org). I872fs (reported as I872fs*10) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
K1358fs frameshift unknown MSH6 K1358fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1358 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). K1358fs has been identified in the scientific literature (PMID: 26436112), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Mar 2020).
T1085fs frameshift unknown MSH6 T1085fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1085 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). T1085fs has been identified in sequencing studies (PMID: 23417712), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Jul 2020).
Y397fs frameshift loss of function - predicted MSH6 Y397fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 397 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). Y397fs (reported as Y397fs*3) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.