VHL I151F (c.451A>T)

CI-VAR-00001970Explore in graph →NP_000542.1:p.Ile151PheNM_000551.3:c.451A>TCIViC 2150

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 I151F (c.451A>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5773 Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This missense mutation was found in a 43-year-old VHL type 1 patient with renal cell carcinom… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC	civic
VHL I151F (c.451A>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6832 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · 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.