CDKN2A D108Y

CI-VAR-00000404Explore in graph →NP_000068.1:p.Asp108TyrNM_000077.5:c.322G>TClinVar 182423 CIViC 2791 rs121913381

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
Unmapped disease1unmapped disease
CDKN2A D108Y	(functional)	Functional	D	Supports Loss Of Function	3	submitted	EID7551 A CDKN2A-deficient human osteosarcoma cell line (U2OS) transfected with D108Y mutant CDKN2A showed a lack of cell cycle arrest similar to an empty vector control, while transfection with wild-type CDK… (full text at CIViC) PMID 12606942 · Greenblatt et al., 2003 · 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
182423	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Familial melanoma	germline	3	Jan 15, 2025	clinvar