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Gene MSH6
Variant T1219D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MSH6 T1219D lies within the ATPase domain of the Msh6 protein (PMID: 17531815). T1219D (corresponding to T1217D in mouse) retains the ability to recognize a DNA mismatch (PMID: 22277660, PMID: 15324697), results in protein expression, stability, subcellular localization, and Msh2 stability similar to wild-type Msh6, and mediates apoptosis in response to DNA damaging agents similar to wild-type Msh6 in cultured cells (PMID: 15324697) but results in loss of mismatch repair activity (PMID: 22277660, PMID: 15324697), acts as a dominant negative in in vitro assays (PMID: 22277660), and increases microsatellite instability in mouse cells (PMID: 15324697).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 T1219D

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Transcript NM_000179.3
gDNA chr2:g.47806212_47806213delACinsGA
cDNA c.3655_3656delACinsGA
Protein p.T1219D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406809.1 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47806212_47806213delACinsGA c.3655_3656delACinsGA p.T1219D 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 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 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 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 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 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 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 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...