VHL R161P (c.482G>C)

CI-VAR-00003692Explore in graph →NP_000542.1:p.Arg161ProNM_000551.3:c.482G>CCIViC 1855

Curated evidence

Evidence by cancer (6 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–6 of 6 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Von Hippel-Lindau Disease6unmapped disease
VHL R161P (c.482G>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5074 Germline mutation analysis of 469 VHL families reveled 300 mutations. The most common germline mutations were identified between codons 75-82, between codons 157-189 (Elongin binding domain) and at th… (full text at CIViC) PMID 8956040 · Zbar et al., 1996 · Open in CIViC	civic
VHL R161P (c.482G>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5259 Case report of a female, Caucasian patient with Von Hippel-Lindau disease. Clinical manifestations include: cerebellar hemangioblastoma, clear cell renal cell carcinoma, pancreatic neuroendocrine tumo… (full text at CIViC) PMID 20442526 · Arkadopoulos et al., 2010 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.