VHL E55RfsTer11 (c.163delG)

CI-VAR-00000791Explore in graph →NP_000542.1:p.Glu55fsNM_000551.2:c.163delGClinVar 428800 CIViC 766 rs869025615

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 E55RfsTer11 (c.163delG)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	accepted	EID1830 This is a frameshift mutation that results in a stop at codon 66. Family 3682 in this publication, variant segregates with disease. VHL Type 1 disease is reported: CNS tumors, retinal angioma, rena… (full text at CIViC) PMID 8956040 · Zbar et al., 1996 · 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
428800	Pathogenic	criteria provided, single submitter	1	Hereditary cancer-predisposing syndrome	germline	1	Nov 23, 2016	clinvar