Gene Variant Detail

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Gene VHL
Variant P81T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL P81T does not lie within any known functional domains of the Vhl protein (UniProt.org). P81T has been identified in sequencing studies (PMID: 21602815), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, May 2022).
Associated Drug Resistance

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Transcript NM_000551.3
gDNA chr3:g.10142088C>A
cDNA c.241C>A
Protein p.P81T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354723.1 chr3:g.10142088C>A c.241C>A p.P81T RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142088C>A c.241C>A p.P81T RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142088C>A c.241C>A p.P81T RefSeq GRCh38/hg38
NM_000551 chr3:g.10142088C>A c.241C>A p.P81T RefSeq GRCh38/hg38
NM_198156 chr3:g.10142088C>A c.241C>A p.P81T RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 clear cell renal cell carcinoma not applicable N/A Guideline Risk Factor Germline mutations in VHL result in von Hippel Lindau syndrome, which is associated with increased risk of developing clear cell renal cancer (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 islet cell tumor not applicable N/A Guideline Risk Factor Germline mutations in VHL result in von Hippel Lindau syndrome, which is associated with increased risk of developing pancreatic neuroendocrine tumors (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
VHL P81T unknown