VHL S80N (c.239G>A)

CI-VAR-00004133Explore in graph →NP_000542.1:p.Ser80AsnNM_000551.3:c.239G>ACIViC 1874 rs5030805

Curated evidence

Evidence by cancer (11 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 1–11 of 11 evidence items across 2 cancer contexts 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
Renal Cell Carcinoma1
VHL S80N (c.239G>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	accepted	EID5371 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a Slovakian, VHL type 1 family of 13 affected individuals. Seven had retinal ang… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
Von Hippel-Lindau Disease10unmapped disease
VHL S80N (c.239G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5106 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)

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.