VHL *214G (c.640T>G)

CI-VAR-00000015Explore in graph →NP_000542.1:p.Ter214GlyNM_000551.3:c.640T>GCIViC 2488

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL *214G (c.640T>G)	(predisposing)	Predisposing	C	N/A N/A	2	accepted	EID6723 A 49 year old female (Patient 3) from Europe presented with a unilateral adrenal pheochromocytoma. Genetic testing confirmed germline missense mutation found at c.640T>G in the VHL gene (reported as T… (full text at CIViC) PMID 12673678 · Dannenberg et al., 2003 · Open in CIViC	civic
VHL *214G (c.640T>G)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8258 A series of 28 pheochromacytomas from 28 patients from the Freiburg International Pheochromaccytoma Registry were used to study for somatic point mutation variants and loss of heterozygosity. 9 out of… (full text at CIViC) PMID 22573489 · Weber et al., 2012 · 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.