MSH6 I1109fs
Gene Variant Detail

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Gene MSH6
Variant I1109fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions 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) is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 I1109fs

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Transcript NM_000179.3
gDNA chr2:g.(47803571_47803572)
cDNA c.(3325_3324)
Protein p.I1109fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001281492.2 chr2:g.(47806271_47806272) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001281492 chr2:g.(47806271_47806272) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_000179.3 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001281492.1 chr2:g.(47806271_47806272) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
XM_024452820.1 chr2:g.(47804978_47804979) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
XM_011532798 chr2:g.(47804978_47804979) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_000179.2 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_000179 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MSH6 mutant colorectal cancer not applicable N/A Clinical Study Diagnostic Germline mutations in MSH6 are associated with microsatellite instability in colorectal cancer (CRC), and are diagnostic for Lynch syndrome (hereditary nonpolyposis colorectal cancer) in colorectal cancer patients (PMID: 26582061; PMID: 19125127). 26582061 19125127
MSH6 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
MSH6 mutant rectum cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). detail...
MSH6 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MSH6 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org). detail...
MSH6 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MSH6 mutant adrenocortical carcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing adrenocortical carcinoma (NCCN.org). detail...
MSH6 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MSH6 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...