VHL Q96P (c.287A>C)

CI-VAR-00003598Explore in graph →NP_000542.1:p.Gln96ProNM_000551.3:c.287A>CCIViC 1818

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL Q96P (c.287A>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5002 In a study of 138 unrelated VHL families, 109 germline mutations were found. Missense mutations were more frequently found in families with pheochromocytoma (PC). Deletions. Nonsense, and frameshift m… (full text at CIViC) PMID 8730290 · Maher et al., 1996 · Open in CIViC	civic
VHL Q96P (c.287A>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID9392 A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. Patient ID 70 was found with this germline mutation and CNS hemangioblastoma; renal cell carcinoma; reti… (full text at CIViC) PMID 31368132 · Salama et al., 2019 · 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.