VHL Q164* (c.490C>T)

CI-VAR-00003499Explore in graph →NP_000542.1:p.Gln164TerNM_000551.3:c.490C>TClinVar 223228 CIViC 1845 rs5030819

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
Clear Cell Renal Cell Carcinoma1
VHL Q164* (c.490C>T)	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID6925 Tumors from 98 patients with sporadic clear cell renal cell carcinoma (ccRCC) were analyzed for VHL mutations and loss of heterozygosity (LOH). Somatic VHL variants were observed in 56 patients, and V… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC	civic
Von Hippel-Lindau Disease10unmapped disease
VHL Q164* (c.490C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5051 Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mutations predicted to inactivate the VHL protein were associated with renal cell carcinoma and hemang… (full text at 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
223228	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	5	May 05, 2021	clinvar