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Gene VHL
Variant E70_R79dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions VHL E70_R79dup indicates the insertion of ten duplicate amino acids, glutamic acid (E)-70 through arginine (R)-79, in the Vhl protein (UniProt.org). E70_R79dup has not been characterized in the scientific literature and therefore, its effect on Vhl protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL E70_R79dup

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Transcript NM_000551.4
gDNA chr3:g.10142055_10142084
cDNA c.208_237
Protein p.E70_R79
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10142055_10142084 c.208_237 p.E70_R79 RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142055_10142084 c.208_237 p.E70_R79 RefSeq GRCh38/hg38
NM_000551 chr3:g.10142084_10142085insGAGCCTAGCCAAGTAATCTTTTGTAACAGG c.237_238insGAGCCTAGCCAAGTAATCTTTTGTAACAGG p.E70_R79dup RefSeq GRCh38/hg38
NM_198156 chr3:g.10142084_10142085insGAGCCTAGCCAAGTAATCTTTTGTAACAGG c.237_238insGAGCCTAGCCAAGTAATCTTTTGTAACAGG p.E70_R79dup RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142055_10142084 c.208_237 p.E70_R79 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
VHL mutant islet cell tumor sensitive Belzutifan Guideline Actionable Welireg (belzutifan) is included in guidelines for patients with well-differentiated Grade 1/2 progressive pancreatic neuroendocrine tumors harboring germline VHL mutations (NCCN.org). detail...
VHL mutant renal cell carcinoma no benefit Unspecified VEGFR inhibitor Clinical Study - Meta-analysis Actionable In a meta-analysis of 6 clinical studies, VHL mutation status was not associated with overall response rate (relative risk=1.47, p=0.20), progression-free survival (HR=1.02, p=0.91), or overall survival (HR=0.80, p=0.21) in a total of 633 patients with renal cell carcinoma who received anti-VEGF therapies (PMID: 28103578). 28103578
VHL mutant renal cell carcinoma predicted - sensitive Sunitinib Phase I Actionable In a Phase I trial, 33% (6/18) of renal cell carcinoma patients harboring a VHL mutation, as determined from archived patient specimens, demonstrated a partial response when treated with Sutent (sunitinib) (PMID: 22105611). 22105611
VHL mutant renal cell carcinoma sensitive Everolimus Phase I Actionable In a Phase I study, Afinitor (everolimus), as compared to Apitolisib (GDC-0980), resulted in a greater progression free survival and overall survival in patients with renal cell carcinoma harboring VHL mutations (J Clin Oncol 32:5s, 2014 (suppl; abstr 4525)). detail...