Deletion | NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) | BRCA1 | Pathogenic | 17 | 41245592 | 41245595 | TTTTC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2072&base_change=del GAAA,Breast Cancer Information Core (BIC) (BRCA1):2017&base_change=del GAAA,ClinGen:CA001293 |
single nucleotide variant | NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter) | BRCA1 | Pathogenic | 17 | 41245588 | 41245588 | T | A | reviewed by expert panel | ClinGen:CA001303 |
Deletion | NM_007294.4(BRCA1):c.1961del (p.Lys654fs) | BRCA1 | Pathogenic | 17 | 41245587 | 41245587 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2080&base_change=del A,ClinGen:CA001306 |
Deletion | NM_007294.4(BRCA1):c.1972del (p.Met658fs) | BRCA1 | Pathogenic | 17 | 41245576 | 41245576 | AT | A | reviewed by expert panel | ClinGen:CA001317 |
Deletion | NM_007294.4(BRCA1):c.2071del (p.Arg691fs) | BRCA1 | Pathogenic | 17 | 41245477 | 41245477 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2187&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):2190&base_change=del A,ClinGen:CA001367 |
Duplication | NM_007294.4(BRCA1):c.2105dup (p.Leu702fs) | BRCA1 | Pathogenic | 17 | 41245442 | 41245443 | T | TA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2224&base_change=ins T,ClinGen:CA001393 |
single nucleotide variant | NM_007294.4(BRCA1):c.212+1G>A | BRCA1 | Pathogenic | 17 | 41258472 | 41258472 | C | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):331+1&base_change=G to A,ClinGen:CA001405 |
single nucleotide variant | NM_007294.4(BRCA1):c.213-11T>G | BRCA1 | Pathogenic | 17 | 41256984 | 41256984 | A | C | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):332-11&base_change=T to G,ClinGen:CA001424,OMIM:113705.0004 |
single nucleotide variant | NM_007294.4(BRCA1):c.213-12A>G | BRCA1 | Pathogenic | 17 | 41256985 | 41256985 | T | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):332-12&base_change=A to G,ClinGen:CA001426 |
single nucleotide variant | NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) | BRCA1 | Pathogenic | 17 | 41245410 | 41245410 | G | C | reviewed by expert panel | ClinGen:CA001436 |