Table 2

Resources relevant for BRCA1/2 variant assessment/classification

Utility/FunctionDatabase/ResourcesWeb address/References
Population databases Genome Aggregation Database
Variant databases as related to disease phenotypes ClinVar
ARUP database
Leiden Open Variation Database (LOVD)
Canadian Open Genetics Repository
Catalog of Somatic Mutations in Cancer (COSMIC)
OncoKB (Precision Oncology Knowledge Base)
Nextprot Cancer Variants portal
PMID: 29996917
BRCA1/2-specific resources NHGRI Breast Cancer Information Core (BIC)
The BRCA Share Database (UMD);
BRCA Exchange
Evidence-based Network for the
Interpretation of Germline Mutant Alleles (ENIGMA)
PMID: 31131967 (supplementary data)
A database of functional classifications of BRCA1 variants based on Saturation Genome Editing
PMID: 29394989
Assessment of the clinical relevance of BRCA2 Missense Variants by functional and computational approachesPMID: 29394989
High-throughput functional evaluation of BRCA2 variants of unknown significancePMID: 32444794
ClinGen Sequence and CNVs interpretation resources Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criteriaPMID: 30192042
Recommendations for application of the functional evidence PS3/BS3 criterionPMID: 31892348
Recommendation for benign stand-alone ACMG/AMP criterion BA1PMID: 30311383
Recommendation for reputable source PP5 and BP6 ACMG/AMP criteriaPMID: 29543229
Technical standards for the interpretation and reporting of constitutional CNVs: a joint consensus recommendation of the ACMG and the Clinical Genome Resource (ClinGen)PMID: 31690835
Additional recommendations (not published in peer-reviewed journals)
  • ACMG, American College of Medical Genetics and Genomics; AMP, Association for Molecular Pathology.