VHL R82G (c.244C>G)

CI-VAR-00003905Explore in graph →NM_000551.3:c.244C>GCIViC 2532

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 R82G (c.244C>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6855 A case report reveals a 3Y girl with right adrenal malignant pheochromocytoma, with the mother diagnosed with von Hippel-Lindau syndrome. The mother was 38Y when diagnosed with bilateral pheochromocyt… (full text at CIViC) PMID 28781534 · Popa et al., 2017 · Open in CIViC	civic
VHL R82G (c.244C>G)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8726 202 pheochromocytomas/paragangliomas, including 75 hereditary tumors, were analyzed using expression profiling, BAC array comparative genomic hybridization and somatic mutation screening. The authors … (full text at CIViC) PMID 21784903 · Burnichon et al., 2011 · Open in 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.