VHL S111R (c.333C>A)

CI-VAR-00003985Explore in graph →NP_000542.1:p.Ser111ArgNM_000551.3:c.333C>ACIViC 2003

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>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5392 A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Missense mutations within the elongin binding doma… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC	civic
VHL S111R (c.333C>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5714 A cohort of 183 affected individuals with VHL disease (VHLD) from 81 unrelated pedigrees were examined and analyzed. 124 of 183 patients had ocular angiomas. Neither prevalence of ocular angiomas nor … (full text at CIViC) PMID 10088816 · Webster et al., 1999 · Open in 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.