VHL K159fs (c.473dup)

CI-VAR-00002091Explore in graph →NP_000542.1:p.Lys159GlufsTer15NM_000551.3:c.473dupCIViC 1872

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL K159fs (c.473dup)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5102 Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, resulted in the detection of 43 germline VHL mutations. Majority of mutations were found in patients … (full text at CIViC) PMID 17661816 · Hes et al., 2007 · Open in CIViC	civic
VHL K159fs (c.473dup)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	accepted	EID5280 Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation causes a premature stop codon at amino acid 173 and was found in… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · 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.