VHL K159fs (c.477_478insCA)

CI-VAR-00002093Explore in graph →ENST00000256474.2:c.477_478insCACIViC 2040

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 K159fs (c.477_478insCA)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5496 A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This mutation was… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC	civic
VHL K159fs (c.477_478insCA)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8798 Tissues embedded in paraffin blocks were collected from 203 cHAB patients operated in different Medical Centres in Poland. Eight of these harboured germline mutations in unrelated patients from distin… (full text at CIViC) PMID 20233476 · Cybulski et al., 2004 · 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.