VHL R167Q (c.500G>A)

CI-VAR-00003705Explore in graph →NP_000542.1:p.Arg167GlnNM_000551.3:c.500G>AClinVar 2216 CIViC 1739 rs5030821

Curated evidence

Evidence by cancer (101 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 1–50 of 101 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 Disease50unmapped disease
VHL R167Q (c.500G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID4903 In this study of the VHL gene product (pVHL), wild-type pVHL was found to bind to 2 cellular proteins (designated p10 and p14 respectively) of 10 and 14 kilodaltons long consistently in vitro and in v… (full text at CIViC) PMID 7553625 · Kishida et al., 1995 · Open in CIViC	civic
VHL R167Q (c.500G>A)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID4913 In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. The p… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC

ClinVar

Clinical significance (1)

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

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
2216	Pathogenic	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Pheochromocytoma	germline	20	Jun 25, 2024	clinvar