VHL S111R (c.331A>C)

CI-VAR-00003984Explore in graph →NP_000542.1:p.Ser111ArgNM_000551.3:c.331A>CCIViC 2156

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Disease2unmapped disease
VHL S111R (c.331A>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5783 In the analysis of 63 VHL patients, 55 patients were found with pancreatic involvement. Genetic tests on 35 of 55 VHL patients revealed VHL mutations in 28 patients. Hemangioblastomas of the central n… (full text at CIViC) PMID 25562111 · Park et al., 2015 · Open in CIViC	civic
VHL S111R (c.331A>C)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID9911 A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene, analyzed through peripheral blood by Southern blotting a… (full text at CIViC) PMID 10567493 · Gläsker et al., 1999 · Open in CIViC	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.