Variant · Splice

VHL Splice Region (c.463+3A>G)

CI-VAR-00004171Explore in graph →NP_000542.1:p.?NM_000551.3:c.463+3A>GClinVar 428796 CIViC 2065 rs1131690954

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL Splice Region (c.463+3A>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5572 A case report of an Indian female patient presenting with bilateral pheochromocytoma, and pancreatic neuroendocrine tumor at 18 years of age. Family history showed 3 family members who were likely aff… (full text at CIViC) PMID 22145147 · Boaz et al., 2011 · Open in CIViC	civic
VHL Splice Region (c.463+3A>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5697 This paper analyzed the VHL gene of 21 patients who had clinical a clinical diagnosis of VHL, familial pheochromocytoma, or sporadic pheochromocytoma. 7 patients were from 3 families, while the remain… (full text at CIViC) PMID 23397066 · Ebenazer et al., 2013 · 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
428796	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Pheochromocytoma; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	7	Mar 07, 2024	clinvar