VHL V87A (c.260T>C)

CI-VAR-00004656Explore in graph →NP_000542.1:p.Val87AlaNM_000551.3:c.260T>CCIViC 2068

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 V87A (c.260T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5588 Molecular and clinical analysis of 126 French VHL families tested for renal involvement revealed 92 different mutations and 71% of the families had renal involvement. This missense mutation was detect… (full text at CIViC) PMID 15300849 · Gallou et al., 2004 · Open in CIViC	civic
VHL V87A (c.260T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10199 Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Repub… (full text at CIViC) PMID 25078357 · Hwang et al., 2014 · 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.