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Gene MSH6
Variant A25S
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MSH6 A25S does not lie within any known functional domains of the Msh6 protein (UniProt.org). A25S demonstrates proficient mismatch repair activity in an in vitro assay (PMID: 22102614), and was not identified to interfere with Msh6 mismatch repair activity in a functional screen (PMID: 28531214).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 A25S

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Transcript NM_000179.3
gDNA chr2:g.47783306G>T
cDNA c.73G>T
Protein p.A25S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001281492.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_000179 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001281492 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47783306G>T c.73G>T p.A25S RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47783306G>T c.73G>T p.A25S 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 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 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 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 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 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 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...