single nucleotide variant | NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) | BRCA1 | Pathogenic | 17 | 41243941 | 41243941 | G | A | reviewed by expert panel | ClinGen:CA002305,OMIM:113705.0012 |
single nucleotide variant | NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) | BRCA1 | Pathogenic | 17 | 41243800 | 41243800 | C | A | reviewed by expert panel | ClinGen:CA002402,OMIM:113705.0013 |
Deletion | NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) | BRCA1 | Pathogenic | 17 | 41243480 | 41243483 | CTTGA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4184&base_change=del TCAA,ClinGen:CA026492,OMIM:113705.0015 |
single nucleotide variant | NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) | BRCA1 | Pathogenic | 17 | 41234451 | 41234451 | G | A | reviewed by expert panel | ClinGen:CA002769,OMIM:113705.0016 |
Duplication | NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) | BRCA1 | Pathogenic | 17 | 41209079 | 41209080 | T | TG | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5382&base_change=ins C,ClinGen:CA003404,OMIM:113705.0018 |
Deletion | NM_007294.4(BRCA1):c.4966_4984del (p.Gly1656fs) | BRCA1 | Pathogenic | 17 | 41222947 | 41222965 | AATTCTTCTGGGGTCAGGCC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5085&base_change=del 19,ClinGen:CA003113,OMIM:113705.0020 |
single nucleotide variant | NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter) | BRCA1 | Pathogenic | 17 | 41245159 | 41245159 | C | A | reviewed by expert panel | ClinGen:CA001588,OMIM:113705.0023 |
Deletion | NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) | BRCA1 | Pathogenic | 17 | 41246702 | 41246705 | ATGAG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):962&base_change=del CTCA,ClinGen:CA003935,OMIM:113705.0024 |
Deletion | NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) | BRCA1 | Pathogenic | 17 | 41244057 | 41244067 | ACTAGTATCTTC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3598&base_change=del AGGAAGATACT,Breast Cancer Information Core (BIC) (BRCA1):3600&base_change=del GAAGATACTAG,ClinGen:CA002244,OMIM:113705.0025 |
Deletion | NM_007294.4(BRCA1):c.1556del (p.Lys519fs) | BRCA1 | Pathogenic | 17 | 41245992 | 41245992 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1675&base_change=del A,ClinGen:CA001042,OMIM:113705.0026 |