VHL G39fs (c.114del)

CI-VAR-00001733Explore in graph →NP_000542.1:p.Gly39AlafsTer28NM_001354723.2:c.114delCIViC 1737

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 G39fs (c.114del)	(predisposing)	Predisposing	C	Supports Predisposition	4	submitted	EID4901 Mutation detected in Chinese family of 12 with VHL disease (VHLD) type 1 phenotype. Mutation found in all family members apart from healthy individuals and 16 unrelated controls. Five patients with ma… (full text at CIViC) PMID 25966224 · Fu et al., 2015 · 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.