VHL *214C (c.641_642insC)

CI-VAR-00000013Explore in graph →NP_000542.1:p.Ter214CysextTer?NM_000551.3:c.641_642insCCIViC 2489

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 *214C (c.641_642insC)	(predisposing)	Predisposing	C	N/A N/A	2	accepted	EID6724 A female of unknown age (Patient 8) from Europe presented with a unilateral adrenal pheochromocytoma. Genetic testing confirmed a germline frameshift mutation found at c.641insC in the VHL gene. Famil… (full text at CIViC) PMID 12673678 · Dannenberg et al., 2003 · Open in CIViC	civic
VHL *214C (c.641_642insC)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID9347 Tissue specimens of apparent sporadic pheochromocytoma were retrieved from the archives of the Department of Pathology of the Erasmus MC (Rotterdam), the Radboud University Nijmegen Medical Center, an… (full text at CIViC) PMID 17102080 · Korpershoek et al., 2006 · Open in CIViC	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.