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Gene MSH6
Variant R511G
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 R511G lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). R511G (corresponds to V508E in mouse) demonstrates deficient mismatch repair activity in a functional screen in mouse cells (PMID: 28531214) and in an in vitro assay (PMID: 31965077), and therefore, is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 R511G

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Transcript NM_000179.3
gDNA chr2:g.47799514A>G
cDNA c.1531A>G
Protein p.R511G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47799514A>G c.1531A>G p.R511G RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799514A>G c.1531A>G p.R511G RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799514A>G c.1531A>G p.R511G RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799514A>G c.1531A>G p.R511G RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799514A>G c.1531A>G p.R511G RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799514A>G c.1531A>G p.R511G RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799514A>G c.1531A>G p.R511G RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799514A>G c.1531A>G p.R511G RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799514A>G c.1531A>G p.R511G RefSeq GRCh38/hg38
NM_000179 chr2:g.47799514A>G c.1531A>G p.R511G RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799514A>G c.1531A>G p.R511G 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 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 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 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 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...