VHL I151S (c.452T>G)

CI-VAR-00001974Explore in graph →NP_000542.1:p.Ile151SerNM_000551.3:c.452T>GClinVar 223215 CIViC 2250 rs869025655

Curated evidence

Evidence by cancer (7 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 1–7 of 7 evidence items across 3 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 I151S (c.452T>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6919 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
Renal Cell Carcinoma1
VHL I151S (c.452T>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6026 In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 ·

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
223215	Pathogenic	no assertion criteria provided	0	Von Hippel-Lindau syndrome	germline	1	Feb 26, 2016	clinvar

Von Hippel-Lindau Disease5unmapped disease
VHL I151S (c.452T>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6833 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · Open in CIViC	civic
VHL I151S (c.452T>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6876 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	civic
VHL I151S (c.452T>G)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8409 A retroactive study was performed of six patients who has undergone surgery for spinal nerve hemangioblastomas at the Albert-Ludwigs-University between 1983 and 2003. An asymptomatic 40 year old femal… (full text at CIViC) PMID 15730575 · Gläsker et al., 2005 · Open in CIViC	civic
VHL I151S (c.452T>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID8604 This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by di… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC	civic
VHL I151S (c.452T>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10890 VHL germline mutation carriers who had an ophthalmologic examination at the Erasmus Medical Centre or the Rotterdam Eye Hospital between 1984 and 2017, and were diagnosed with retinal hemangioblastoma… (full text at CIViC) PMID 32003155 · Hajjaj et al., 2020 · Open in CIViC	civic