Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.

ABSTRACT: Interpretation of genetic variants is most accurate when gene- and disease-specific considerations are considered. The 2015 ACMG/AMP guidelines form the basis for the application of variant interpretation criteria for Mendelian disorders. The Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel (HBOP VCEP) has undertaken the process for creating gene- and disease-specific specifications for the interpretation of PALB2 germline sequence variants. The HBOP VCEP is comprised of experts in the fields of clinical and molecular genetics, epidemiology, functional assays, and variant interpretation. The group met regularly to consider each of the codes from the 2015 ACMG/AMP guidelines to determine their relevance for PALB2. After criteria were created using database ana

SUBMITTER: Richardson ME 

PROVIDER: S-EPMC12520758 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature