PAX5 P80R

CI-VAR-00003408Explore in graph →NP_057953.1:p.Pro80ArgNM_016734.3:c.239C>GClinVar 624590 CIViC 2697 rs2494512979

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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
B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation4
PAX5 P80R	(diagnostic)	Diagnostic	B	Supports Positive	3	accepted	EID7290 In a large-scale international study RNA sequencing was performed to delineate the transcriptome landscape of 1,223 B-cell ALL cases. Twenty two cases were found to have P80R misense mutation in the D… (full text at CIViC) PMID 30487223 · Li et al., 2018 · Open in CIViC	civic
PAX5 P80R	(diagnostic)	Diagnostic	B	Supports Positive	3	accepted	EID7291 Integrated genomic analysis was performed for 1,988 childhood and adult B-ALL cases. Forty four cases (2.2%) showed the P80R substitution in the DNA binding domain for the PAX5 transcription factor ge… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · 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
624590	Likely pathogenic	criteria provided, single submitter	1	Acute lymphoid leukemia	somatic	2	Sep 23, 2023	clinvar