VHL L129fs (c.384delT)

CI-VAR-00002229Explore in graph →ENST00000256474.2:c.384delTCIViC 1996

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 L129fs (c.384delT)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5365 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This mutation was found in 2 German, VHL type 1 family members with hemangioblastomas of the central nervous system,… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
VHL L129fs (c.384delT)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID9915 A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene, analyzed through peripheral blood by Southern blotting a… (full text at CIViC) PMID 10567493 · Gläsker et al., 1999 · 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.