VHL E189fs (c.565del)

CI-VAR-00000692Explore in graph →NP_000542.1:p.Glu189fsNM_000551.4:c.565delClinVar 625267 CIViC 1869 rs1559429829

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL E189fs (c.565del)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5098 Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, resulted in the detection of 43 germline VHL mutations. Majority of mutations were found in patients … (full text at CIViC) PMID 17661816 · Hes et al., 2007 · Open in CIViC	civic
VHL E189fs (c.565del)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID6523 Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this frameshift mutation in the VHL gene. The patient was 30Y at the last follow-up a… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in 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
625267	Likely pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome	germline	1	Aug 01, 2018	clinvar