Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter) | BRCA1 | Pathogenic | 17 | 41245972 | 41245972 | G | A | reviewed by expert panel | ClinGen:CA001054 |
Deletion | NM_007294.4(BRCA1):c.1583_1589del (p.Thr528fs) | BRCA1 | Pathogenic | 17 | 41245959 | 41245965 | TTCAGGAG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1701&base_change=del ACTCCTG,ClinGen:CA001058 |
Deletion | NM_007294.4(BRCA1):c.1595_1601del (p.Ile532fs) | BRCA1 | Pathogenic | 17 | 41245947 | 41245953 | CTGATTTA | C | reviewed by expert panel | ClinGen:CA001060 |
single nucleotide variant | NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter) | BRCA1 | Pathogenic | 17 | 41245948 | 41245948 | G | A | reviewed by expert panel | ClinGen:CA001062 |
Duplication | NM_007294.4(BRCA1):c.1601dup (p.Thr536fs) | BRCA1 | Pathogenic | 17 | 41245946 | 41245947 | C | CT | reviewed by expert panel | ClinGen:CA327756 |
Deletion | NM_007294.4(BRCA1):c.1608_1611del (p.Asn537fs) | BRCA1 | Pathogenic | 17 | 41245937 | 41245940 | GGTTA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1727&base_change=del TAAC,ClinGen:CA001066 |
single nucleotide variant | NM_007294.4(BRCA1):c.160C>T (p.Gln54Ter) | BRCA1 | Pathogenic | 17 | 41258525 | 41258525 | G | A | reviewed by expert panel | ClinGen:CA001069 |
Deletion | NM_007294.4(BRCA1):c.160del (p.Gln54fs) | BRCA1 | Pathogenic | 17 | 41258525 | 41258525 | TG | T | reviewed by expert panel | ClinGen:CA001071 |
single nucleotide variant | NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) | BRCA1 | Pathogenic | 17 | 41245936 | 41245936 | G | A | reviewed by expert panel | ClinGen:CA001073 |
single nucleotide variant | NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) | BRCA1 | Pathogenic | 17 | 41245927 | 41245927 | G | A | reviewed by expert panel | ClinGen:CA001079 |