Variant · Splice

VHL Splice Site (c.464-1G>T)

CI-VAR-00004239Explore in graph →NP_000542.1:p.?NM_000551.3:c.464-1G>TClinVar 223221 CIViC 1990 rs5030817

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 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 Disease11unmapped disease
VHL Splice Site (c.464-1G>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5343 Blood samples from 5 Japanese families revealed 4 germline mutations. This mutation was found in a family of 10 individuals. Three VHL patients were identified with hemangioblastomas of the central ne… (full text at CIViC) PMID 8641976 · Kanno et al., 1996 · Open in CIViC	civic
VHL Splice Site (c.464-1G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5388 A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · 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
223221	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; Clear cell carcinoma of kidney	germline	5	Jan 08, 2025	clinvar