L17* (p.Leu17Ter) variant of PALB2 (Partner and localizer of BRCA2)

Name: PALB2 L17* (p.Leu17Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-09
License: https://catvariant.com/terms-of-use

L17* (p.Leu17Ter) in PALB2 (Partner and localizer of BRCA2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

L17* (p.Leu17Ter) variant details

p.Leu17Ter
rs1567224232
ClinGen CA395140025
ClinVar RCV003607890
Ensembl rs1567224232
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)