VHL I147V (c.439A>G)

CI-VAR-00001969Explore in graph →NP_000542.1:p.Ile147ValNM_000551.3:c.439A>GClinVar 371833 CIViC 2038 rs1057517560

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 I147V (c.439A>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5490 Case report of a female patient who presented with clear cell renal cell carcinoma. Molecular analysis confirmed the presence of the above mutation. ACMG evidence codes: 'PP2' because they observe a m… (full text at CIViC) PMID 20952280 · Petersson et al., 2011 · Open in CIViC	civic

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
371833	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; Nonpapillary renal cell carcinoma; Pheochromocytoma	germline	14	Oct 27, 2025	clinvar