VHL S183fs (c.548delC)

CI-VAR-00004011Explore in graph →NP_000542.1:p.Ser183CysfsTer19NM_000551.3:c.548delCIViC 2100

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL S183fs (c.548delC)	(predisposing)	Predisposing	B	Supports Predisposition	3	submitted	EID4904 • In Swedish family of 41 individuals, 5 carriers of deletion mutation were identified. 3 carriers had clinically verified VHL disease, while 2 other family members were asymptomatic carriers of this … (full text at CIViC) PMID 7700111 · Wiklund et al., 1995 · Open in CIViC	civic
VHL S183fs (c.548delC)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5656 A series of 20 capillary hemangioblastomas of the central nervous system were screened for mutations in the VHL gene. Ten mutations were identified, only 2 of which were germline. Thisframeshift mutat… (full text at CIViC) PMID 8758206 · Oberstrass et al., 1996 · 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.