VHL G144fs (c.431del)

CI-VAR-00001652Explore in graph →NP_000542.1:p.Gly144AspfsNM_000551.3:c.431delGClinVar 223209 CIViC 2560 rs869025651

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 2 cancer contexts 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
Kidney Carcinoma1
VHL G144fs (c.431del)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6917 Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC	civic
Von Hippel-Lindau Disease1unmapped disease
VHL G144fs (c.431del)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5342 Blood samples from 5 Japanese families revealed 4 germline mutations. This mutation causes a premature stop codon at amino acid 158 and was found in a family of 11 individuals. Three VHL patients were… (full text at 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
223209	Pathogenic	no assertion criteria provided	0	Von Hippel-Lindau syndrome	germline	1	Feb 26, 2016	clinvar