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Genomics & Variants
Real-time integration with global population frequencies, clinical evidence databases, and variant effect predictors. Analyze allele frequencies and clinical pathogenicity with AI-driven evidence mapping.
Clinical Evidence DB
GLOBAL DBTotal Variants Found
85,195
Pathogenic
77,874
Benign
40,226
VUS
40,807
Conflicting
106
High Pathogenicity Identified
Based on global clinical assertions submitted to the NCBI ClinVar database.
Population Genomics DB
INSTITUTE DATAGlobal Allele Frequency
0.0416
African / AF
0.0000
European / NFE
0.0000
Top Variant: 1-873808-A-G
Variant Effect Predictor
BIOINFORMATICS DB| Consequence | Impact |
|---|---|
| splice_acceptor_variant | HIGH |
| downstream_gene_variant | MODIFIER |
| upstream_gene_variant | MODIFIER |
Variant Effect Predictor (VEP) determines the effect of variants (SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence.
Pharmacogenomics
REGULATORY DBTargeted Therapies
FDA-approved precision therapies that target or are modulated by BRCA1.
Clinical Pipeline
GLOBAL TRIALS DB663
Active Trials
Ongoing interventional studies actively recruiting patients with BRCA1 mutations.
Highest Impact Clinical Variants
| Variant ID (rsID) | HGVS Expression | Clinical Significance | Review Status | Condition |
|---|---|---|---|---|
| 4879866 | NM_004656.4(BAP1):c.1984-1G>C | Likely pathogenic | criteria provided, single submitter | BAP1-related tumor predisposition syndrome |
| 4879475 | NM_002878.4(RAD51D):c.927A>G (p.Val309=) | Likely benign | criteria provided, single submitter | Hereditary breast ovarian cancer syndrome |
| 4879473 | NM_000059.4(BRCA2):c.19G>C (p.Glu7Gln) | Uncertain significance | criteria provided, single submitter | Hereditary breast ovarian cancer syndrome |
| 4879472 | NM_058216.3(RAD51C):c.404+116T>C | Uncertain significance | criteria provided, single submitter | Hereditary breast ovarian cancer syndrome |
| 4879468 | NM_007294.4(BRCA1):c.4945_4946insTTTT (p.Arg1649fs) | Likely pathogenic | criteria provided, single submitter | Hereditary breast ovarian cancer syndrome |
| 4876757 | NM_000051.4(ATM):c.8584_8584+5del | Likely pathogenic | criteria provided, single submitter | Familial cancer of breast |
| 4876232 | NM_000059.4(BRCA2):c.7358A>G (p.Glu2453Gly) | Uncertain significance | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 2 |
| 4876167 | NM_000051.4(ATM):c.1162_1165del (p.Lys387_Lys388insTer) | Pathogenic | criteria provided, single submitter | Familial cancer of breast |
| 4876166 | NM_007194.4(CHEK2):c.729T>A (p.Cys243Ter) | Pathogenic | criteria provided, single submitter | Familial cancer of breast |
| 4876165 | NM_000059.4(BRCA2):c.6577G>T (p.Glu2193Ter) | Pathogenic | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 2 |
| 4876164 | NM_032043.3(BRIP1):c.2379G>C (p.Gln793His) | Likely pathogenic | criteria provided, single submitter | Familial ovarian cancer |
| 4876163 | NM_000465.4(BARD1):c.1432G>T (p.Glu478Ter) | Pathogenic | criteria provided, single submitter | Familial cancer of breast |
| 4876161 | NM_000059.4(BRCA2):c.4658del (p.Thr1553fs) | Pathogenic | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 2 |
| 4876150 | NM_007194.4(CHEK2):c.1462-1G>T | Likely pathogenic | criteria provided, single submitter | Familial cancer of breast |
| 4876145 | NM_032043.3(BRIP1):c.2380-2A>G | Likely pathogenic | criteria provided, single submitter | Familial ovarian cancer |
| 4876141 | NM_007194.4(CHEK2):c.1462-2A>C | Likely pathogenic | criteria provided, single submitter | Familial cancer of breast |
| 4876137 | NM_007294.4(BRCA1):c.451del (p.Ser151fs) | Pathogenic | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1 |
| 4876134 | NM_007294.4(BRCA1):c.661G>A (p.Ala221Thr) | Likely benign | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1 |
| 4876127 | NM_007194.4(CHEK2):c.57del (p.Gln20fs) | Pathogenic | criteria provided, single submitter | Familial cancer of breast |
| 4876126 | NM_024675.4(PALB2):c.1381del (p.Ser461fs) | Pathogenic | criteria provided, single submitter | Familial cancer of breast |
