Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | Single allele | BRCA1 | Pathogenic | 17 | 41276034 | 41276113 | na | na | criteria provided, single submitter | - |
Deletion | Single allele | BRCA1 | Pathogenic | 17 | 41197694 | 41197818 | na | na | criteria provided, single submitter | - |
Duplication | NM_000059.4(BRCA2):c.8533dup (p.Arg2845fs) | BRCA2 | Pathogenic | 13 | 32945135 | 32945136 | G | GA | reviewed by expert panel | ClinGen:CA645509336 |
single nucleotide variant | NM_000059.4(BRCA2):c.-39-2A>G | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32890557 | 32890557 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509354 |
Deletion | NM_000059.4(BRCA2):c.1887_1893del (p.Thr630fs) | BRCA2 | Pathogenic | 13 | 32907501 | 32907507 | CTTACATT | C | reviewed by expert panel | ClinGen:CA609453771 |
single nucleotide variant | NM_000059.4(BRCA2):c.2860G>T (p.Glu954Ter) | BRCA2 | Pathogenic | 13 | 32911352 | 32911352 | G | T | reviewed by expert panel | ClinGen:CA387773975 |
single nucleotide variant | NM_000059.4(BRCA2):c.3376G>T (p.Glu1126Ter) | BRCA2 | Pathogenic | 13 | 32911868 | 32911868 | G | T | reviewed by expert panel | ClinGen:CA387776416 |
Deletion | NM_000059.4(BRCA2):c.4037del (p.Thr1346fs) | BRCA2 | Pathogenic | 13 | 32912529 | 32912529 | AC | A | reviewed by expert panel | ClinGen:CA609453793 |
Deletion | NM_000059.4(BRCA2):c.4346_4350del (p.Asn1448_Phe1449insTer) | BRCA2 | Pathogenic | 13 | 32912836 | 32912840 | ATTTCT | A | reviewed by expert panel | ClinGen:CA645509346 |
Deletion | NM_000059.4(BRCA2):c.4376del (p.Asn1459fs) | BRCA2 | Pathogenic | 13 | 32912867 | 32912867 | TA | T | reviewed by expert panel | ClinGen:CA645509347 |