VHL P154= (c.462A>C)

CI-VAR-00003288Explore in graph →NP_000542.1:p.Pro154=NM_000551.3:c.462A>CCIViC 1962

Curated evidence

Evidence by cancer (10 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 1–10 of 10 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 Disease10unmapped disease
VHL P154= (c.462A>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5285 Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This silent mutation was found in two VHL type 2A family members (patient no. … (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC	civic
VHL P154= (c.462A>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	accepted	EID6513 Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this missense varaint in the VHL gene. The patient was 71Y at the last follow-up and … (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · 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.