Variant · Splice

VHL Splice Site (c.464-2A>G)

CI-VAR-00004241Explore in graph →NM_000551.3:c.464-2A>GClinVar 223222 CIViC 2078 rs5030816

Curated evidence

Evidence by cancer (8 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 1–8 of 8 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 Disease8unmapped disease
VHL Splice Site (c.464-2A>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5462 53 patients with a molecularly confirmed VHL mutation and a pancreatic neuroendocrine tumor were collected from the German NET-Registry and the German VHL-registry. 2 patients were found to have the a… (full text at CIViC) PMID 20660572 · Erlic et al., 2010 · Open in CIViC	civic
VHL Splice Site (c.464-2A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5615 64 VHL patients with renal involvement were analyzed. 61 of the 64 patients had a known germline mutation. The above mutation was found in 1 patient. Clinical manifestations included renal cell carcin… (full text at CIViC) PMID 22156657 · Jilg et al., 2012 · 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
223222	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Nonpapillary renal cell carcinoma; Pheochromocytoma; VHL-related disorder; Familial prostate cancer; Clear cell carcinoma of kidney	germline	7	Jan 30, 2023