VHL P172fs (c.514delC)

CI-VAR-00003300Explore in graph →CIViC 2274

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL P172fs (c.514delC)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6071 A series of 20 capillary hemangioblastomas of the central nervous system were screened for mutations in the VHL gene. Ten mutations were identified, only 2 of which were germline. Thisframeshift mutat… (full text at CIViC) PMID 8758206 · Oberstrass et al., 1996 · 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.