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Gene VHL
Variant R108del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions VHL R108del results in the deletion of an amino acid in the CCT complex-binding region of the Vhl protein at amino acid 108 (UniProt.org). R108del 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 R108del

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Transcript NM_000551.4
gDNA chr3:g.10142169_10142171delCGC
cDNA c.322_324delCGC
Protein p.R108delR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10142169_10142171delCGC c.322_324delCGC p.R108del RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142169_10142171delCGC c.322_324delCGC p.R108delR RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142169_10142171delCGC c.322_324delCGC p.R108delR RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142169_10142171delCGC c.322_324delCGC p.R108delR RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142169_10142171delCGC c.322_324delCGC p.R108del RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142169_10142171delCGC c.322_324delCGC p.R108del RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
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 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 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