VHL C162Y (c.485G>A)

CI-VAR-00000286Explore in graph →NP_000542.1:p.Cys162TyrNM_000551.3:c.485G>AClinVar 223225 CIViC 1824 rs397516444

Curated evidence

Evidence by cancer (13 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 1–13 of 13 evidence items across 2 cancer contexts 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
Kidney Carcinoma1
VHL C162Y (c.485G>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6923 Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC	civic
Von Hippel-Lindau Disease12unmapped disease
VHL C162Y (c.485G>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5010 In a study of 138 unrelated VHL families, 109 germline mutations were found. Missense mutations were more frequently found in families with pheochromocytoma (PC). Deletions. Nonsense, and frameshift m… (full text at 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
223225	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Pheochromocytoma	germline	4	Aug 08, 2025	clinvar