PNKP NM_007254.4(PNKP):c.1497G>A (p.Leu499=)

CI-VAR-00018229Explore in graph →p.Leu499=NM_007254.4:c.1497G>AClinVar 95481 rs142199280

Curated evidence

Evidence by cancer (0 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.

Data not yet available

No curated evidence item references this variant yet.

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
95481	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Developmental and epileptic encephalopathy, 12; Inborn genetic diseases; PNKP-related disorder; Malignant tumor of urinary bladder; Familial cancer of breast; Gastric cancer	germline	11	Jan 15, 2026	clinvar