VHL P86S (c.256C>T)

CI-VAR-00003422Explore in graph →NP_000542.1:p.Pro86SerNM_000551.3:c.256C>TClinVar 178692 CIViC 1902 rs398123481

Curated evidence

Evidence by cancer (28 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 1–28 of 28 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
Renal Cell Carcinoma1
VHL P86S (c.256C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6008 Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC	civic
Von Hippel-Lindau Disease27unmapped disease
VHL P86S (c.256C>T)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID5158 Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (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
178692	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; VHL-related disorder	germline	10	Jul 03, 2025	clinvar