VHL Y112N (c.334T>A)

CI-VAR-00004746Explore in graph →NP_000542.1:p.Tyr112AsnNM_000551.3:c.334T>AClinVar 2228 CIViC 2006 rs104893824

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 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 Disease2unmapped disease
VHL Y112N (c.334T>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5396 A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Missense mutations within the elongin binding doma… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC	civic
VHL Y112N (c.334T>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	4	submitted	EID5866 This paper analyzes a large family with Von-Hippel Lindau disease. Clinical manifestations consistent with VHL were found in 13 members of this family and all 5 affected family members who were genet… (full text at CIViC) PMID 10533030 · Bradley et al., 1999 · 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
2228	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	4	Oct 15, 2024	clinvar