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Gene VHL
Variant H115R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL H115R lies within the CCT complex-binding region of the Vhl protein (UniProt.org). H115R results in exon 2 skipping splice variants similar to wild-type (PMID: 36905328) and is predicted to disrupt the Hif1a binding activity of the Vhl protein based on computer modeling (PMID: 22105711), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL H115R

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Transcript NM_000551.4
gDNA chr3:g.10146517A>G
cDNA c.344A>G
Protein p.H115R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10146517A>G c.344A>G p.H115R RefSeq GRCh38/hg38
NM_000551 chr3:g.10146517A>G c.344A>G p.H115R RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146517A>G c.344A>G p.H115R 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 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 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 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...