VHL C162* (c.486C>A)

CI-VAR-00000281Explore in graph →NP_000542.1:p.Cys162TerNM_000551.3:c.486C>AClinVar 223226 CIViC 2528 rs5030622

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Disease2unmapped disease
VHL C162* (c.486C>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6839 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · Open in CIViC	civic
VHL C162* (c.486C>A)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8384 Of 31 Brazilian patients, one was found to harbour the c.486C>A (p.Cys162*) mutation of the VHL gene. Genomic DNA was extracted and all VHL coding regions were analyzed by Sanger sequencing. MLPA was … (full text at CIViC) PMID 31528828 · Fagundes et al., 2019 · Open in 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
223226	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	3	Dec 17, 2024	clinvar