VHL W117Cfs*42 (c.351del)

CI-VAR-00004674Explore in graph →CIViC 3142

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 W117Cfs*42 (c.351del)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8603 This study reports 1,548 germline and somatic mutations from 945 VHL families. This frameshift mutation was detected as sporadic germline in case no. 198 with hemangioblastoma of the central nervous s… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · 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.