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Gene MSH6
Variant G881delinsKS
Impact List indel
Protein Effect no effect - predicted
Gene Variant Descriptions MSH6 G881delinsKS results in a deletion of glycine (G) at amino acid 881 within the lever domain of the Msh6 protein, combined with the insertion of a lysine (K) and a serine (S) at the same site (PMID: 17531815). G881delinsKS results in dimerization with Msh2 similar to wild-type Msh6 in cultured cells and complements mismatch repair activity in Msh6-deficient cells (PMID: 15354210), and therefore, is predicted to have no effect on Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 G881delinsKS

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Transcript NM_000179.3
gDNA chr2:g.47800624_47800626delinsAAGAGC
cDNA c.2641_2643delinsAAGAGC
Protein p.G881_881delinsKS
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406798.1 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881delinsKS RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS 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 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 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 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 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 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 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 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...
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...