Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_007294.4(BRCA1):c.2706del (p.Glu902fs) | BRCA1 | Pathogenic | 17 | 41244842 | 41244842 | AT | A | criteria provided, single submitter | - |
single nucleotide variant | NM_002878.4(RAD51D):c.576+1G>T | RAD51D | Likely pathogenic | 17 | 33433404 | 33433404 | C | A | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_41201118)_(41203154_?)dup | BRCA1 | Likely pathogenic | 17 | 41201118 | 41203154 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_58709849)_(58710000_?)del | RAD51C | Likely pathogenic | 17 | 56787210 | 56787361 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_43104102)_(43115799_?)del | BRCA1 | Pathogenic | 17 | 41256119 | 41267816 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_41251772)_(41267816_?)dup | BRCA1 | Likely pathogenic | 17 | 41251772 | 41267816 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_43099755)_(43115799_?)del | BRCA1 | Pathogenic | 17 | 41251772 | 41267816 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_41251772)_(41251917_?)dup | BRCA1 | Likely pathogenic | 17 | 41251772 | 41251917 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_43067588)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41219605 | 41277500 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_007294.4(BRCA1):c.5074+2T>A | BRCA1 | Pathogenic | 17 | 41219623 | 41219623 | A | T | criteria provided, multiple submitters, no conflicts | - |