VHL Splice Site (c.341-2A>C)

CI-VAR-00004227Explore in graph →NM_000551.3:c.341-2A>CCIViC 2133

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 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
Renal Cell Carcinoma1
VHL Splice Site (c.341-2A>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	accepted	EID5730 Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. This mutation was found in a VHL type 2 patient with retinal angiomas, hemangioblastomas of the central nervous sys… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
Von Hippel-Lindau Disease1unmapped disease
VHL Splice Site (c.341-2A>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5748 Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, resulted in the detection of 43 germline VHL mutations. Majority of mutations were found in patients … (full text at CIViC)

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.