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| Gene | RET |
| Variant | V804X |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RET V804X indicates any Ret missense mutation that results in replacement of the valine (V) at amino acid 804 by a different amino acid. |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET V804X |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43119548_43119550 |
| cDNA | c.2410_2412 |
| Protein | p.V804 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_020630.5 | chr10:g.43119548_43119550 | c.2410_2412 | p.V804 | RefSeq | GRCh38/hg38 |
| NM_020630 | chr10:g.43119548_43119550 | c.2410_2412 | p.V804 | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43119548_43119550 | c.2410_2412 | p.V804 | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43119548_43119550 | c.2410_2412 | p.V804 | RefSeq | GRCh38/hg38 |
| NM_020975 | chr10:g.43119548_43119550 | c.2410_2412 | p.V804 | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43119548_43119550 | c.2410_2412 | p.V804 | RefSeq | GRCh38/hg38 |
| NM_020975.6 | chr10:g.43119548_43119550 | c.2410_2412 | p.V804 | RefSeq | GRCh38/hg38 |
| NM_020975.5 | chr10:g.43119548_43119550 | c.2410_2412 | p.V804 | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43119548_43119550 | c.2410_2412 | p.V804 | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43119548_43119550 | c.2410_2412 | p.V804 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RET V804X | medullary thyroid carcinoma | not applicable | N/A | Guideline | Risk Factor | Germline RET V804X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org). | detail... |
| RET V804X | medullary thyroid carcinoma | sensitive | Pralsetinib | Phase Ib/II | Actionable | In a Phase I/II trial (ARROW), Gavreto (pralsetinib) treatment was well-tolerated, and resulted in an overall response rate (ORR) of 65% (51/79, 5% complete response, 59% partial response) in patients with advanced or metastatic medullary thyroid cancer harboring RET mutations, 4% of the patients harbored RET V804X (Ann Oncol. Vol 31, Supplement 4, S1084, Sep 1, 2020; NCT03037385). | detail... |