RRM2B NM_015713.5(RRM2B):c.48G>A (p.Glu16=)

CI-VAR-00020528Explore in graph →p.Glu16=NM_015713.5:c.48G>AClinVar 132103 rs515726180

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
132103	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	RRM2B-related mitochondrial disease; Mitochondrial disease; Mitochondrial DNA depletion syndrome 8a; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	germline	8	Nov 28, 2025	clinvar