VHL *214C (c.642A>T)

CI-VAR-00000014Explore in graph →NP_000542.1:p.Ter214CysNM_000551.3:c.642A>TClinVar 625270 CIViC 1988 rs1559430011

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL *214C (c.642A>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5336 This paper identified run-on mutations in 5 members of 4 distinct families. More specifically, genetic testing demonstrated the above mutation (X214CextX15) in 1 individual in a single family. Clinica… (full text at CIViC) PMID 20560986 · Sorrell et al., 2011 · Open in CIViC	civic

ClinVar

Clinical significance (1)

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

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
625270	Likely pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome	germline	1	Aug 01, 2018	clinvar