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Gene | MSH6 |
Variant | T1010A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 T1010A lies within the lever domain of the Msh6 protein (PMID: 17531815). T1010A has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 T1010A |
Transcript | NM_000179.3 |
gDNA | chr2:g.47801011A>G |
cDNA | c.3028A>G |
Protein | p.T1010A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000179 | chr2:g.47801011A>G | c.3028A>G | p.T1010A | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47801011A>G | c.3028A>G | p.T1010A | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47801011A>G | c.3028A>G | p.T1010A | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47801011A>G | c.3028A>G | p.T1010A | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47801011A>G | c.3028A>G | p.T1010A | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47801011A>G | c.3028A>G | p.T1010A | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47801011A>G | c.3028A>G | p.T1010A | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47801011A>G | c.3028A>G | p.T1010A | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47801011A>G | c.3028A>G | p.T1010A | RefSeq | GRCh38/hg38 |
NM_001406813.1 | chr2:g.47801005A>G | c.3028A>G | p.T1010A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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... |
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 | 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 | 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 | 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 | 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... |