VHL P154fs (c.462delA)

CI-VAR-00003297Explore in graph →NP_000542.1:p.Val155CysfsTer4NM_000551.3:c.462delCIViC 1771

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 P154fs (c.462delA)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID4937 In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC	civic
VHL P154fs (c.462delA)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6467 VHL patients were screened for mutations by single-strand conformational polymorphism analysis and DNA sequencing. Restriction fragment length polymorphism confirmed a familial frameshift mutation (c.… (full text at CIViC) PMID 7981696 · Kishida et al., 1994 · 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.