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

American journal of human genetics - 2 Oct 2025

Richardson Marcy E, Bishop Megan F H, Holdren Megan A, de la Hoya Miguel, Spurdle Amanda B, Tavtigian Sean V, Brannan Terra, Young Colin C, Zec Lauren, Hiraki Susan, Turnbull Clare, Tischkowitz Marc, Bernstein Kara A, Masson Jean-Yves, McNulty Shannon M, Pesaran Tina, Monteiro Alvaro N, Walker Logan C, Foulkes William D, Couch Fergus J

Abstract excerpt

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...

Topics

Humans
Fanconi Anemia Complementation Group N Protein
Germ-Line Mutation
Genetic Testing
Female
Tumor Suppressor Proteins
Databases, Genetic
Genetic Variation

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Identifiers

PMID: 40967221
DOI: 10.1016/j.ajhg.2025.08.020
PMCID: PMC12520758

Genes

PALB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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