VHL S111R (c.333C>G)

CI-VAR-00003986Explore in graph →NP_000542.1:p.Ser111ArgNM_000551.3:c.333C>GClinVar 223187 CIViC 1764 rs765978945

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.333C>G)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID4930 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. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC	civic
VHL S111R (c.333C>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5498 A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This missense mut… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · 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
223187	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia	germline	3	Oct 09, 2023	clinvar