Resources relevant for BRCA1/2 variant assessment/classification
| Utility/Function | Database/Resources | Web address/References |
| Population databases | Genome Aggregation Database | https://gnomad.broadinstitute.org/ |
| Variant databases as related to disease phenotypes | ClinVar | http://www.ncbi.nlm.nih.gov/clinvar/ |
| ARUP database | http://arup.utah.edu/database | |
| Leiden Open Variation Database (LOVD) | https://www.lovd.nl/ | |
| Canadian Open Genetics Repository | http://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 portal |
https://www.nextprot.org/portals/cancer-variants
PMID: 29996917 | |
| BRCA1/2-specific resources | NHGRI 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 Exchange | https://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 Editing |
https://sge.gs.washington.edu/BRCA1/
PMID: 29394989 | |
| Assessment of the clinical relevance of BRCA2 Missense Variants by functional and computational approaches | PMID: 29394989 | |
| High-throughput functional evaluation of BRCA2 variants of unknown significance | PMID: 32444794 | |
| ClinGen Sequence and CNVs interpretation resources | Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criteria | PMID: 30192042 |
| Recommendations for application of the functional evidence PS3/BS3 criterion | PMID: 31892348 | |
| Recommendation for benign stand-alone ACMG/AMP criterion BA1 | PMID: 30311383 | |
| Recommendation for reputable source PP5 and BP6 ACMG/AMP criteria | PMID: 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.