Table 2

Resources relevant for BRCA1/2 variant assessment/classification

Utility/FunctionDatabase/ResourcesWeb address/References
Population databasesGenome Aggregation Databasehttps://gnomad.broadinstitute.org/
Variant databases as related to disease phenotypesClinVarhttp://www.ncbi.nlm.nih.gov/clinvar/
ARUP databasehttp://arup.utah.edu/database
Leiden Open Variation Database (LOVD)https://www.lovd.nl/
Canadian Open Genetics Repositoryhttp://opengenetics.ca/
Catalog of Somatic Mutations in Cancer (COSMIC)https://cancer.sanger.ac.uk/cosmic
OncoKB (Precision Oncology Knowledge Base)https://www.oncokb.org/
Nextprot Cancer Variants portalhttps://www.nextprot.org/portals/cancer-variants
PMID: 29996917
BRCA1/2-specific resourcesNHGRI Breast Cancer Information Core (BIC)https://research.nhgri.nih.gov/bic/
The BRCA Share Database (UMD)http://www.umd.be/BRCA1/; http://www.umd.be/BRCA2/
BRCA Exchangehttps://brcaexchange.org/
Evidence-based Network for the
Interpretation of Germline Mutant Alleles (ENIGMA)
https://enigmaconsortium.org/
PMID: 31131967 (supplementary data)
A database of functional classifications of BRCA1 variants based on Saturation Genome Editinghttps://sge.gs.washington.edu/BRCA1/
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 resourcesRecommendations 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)https://www.clinicalgenome.org/working-groups/sequence-variant-interpretation/
  • ACMG, American College of Medical Genetics and Genomics; AMP, Association for Molecular Pathology.