NBN NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)

CI-VAR-00026269Explore in graph →p.Gln448LeuNM_002485.5:c.1343A>TClinVar 182720 rs146403088

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
182720	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; NBN-related disorder; Hereditary breast ovarian cancer syndrome	germline	13	Dec 17, 2025	clinvar