VHL W88S (c.263G>C)

CI-VAR-00004722Explore in graph →NP_000542.1:p.Trp88SerNM_000551.3:c.263G>CClinVar 2220 CIViC 1966 rs119103277

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 W88S (c.263G>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5296 Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V266). N… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC	civic
VHL W88S (c.263G>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6805 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · 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
2220	Pathogenic	no assertion criteria provided	0	Von Hippel-Lindau syndrome	somatic	1	Dec 01, 1995	clinvar