single nucleotide variant | NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) | BRCA1 | Pathogenic | 17 | 41258474 | 41258474 | T | C | reviewed by expert panel | ClinGen:CA001398,OMIM:113705.0034 |
single nucleotide variant | NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) | BRCA1 | Pathogenic | 17 | 41203088 | 41203088 | A | C | reviewed by expert panel | BRCA1-HCI:BRCA1_00105,ClinGen:CA003478,UniProtKB:P38398#VAR_007799,OMIM:113705.0035 |
single nucleotide variant | NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) | BRCA1 | Pathogenic | 17 | 41203088 | 41203088 | A | T | reviewed by expert panel | BRCA1-HCI:BRCA1_00110,ClinGen:CA003476,UniProtKB:P38398#VAR_063212,OMIM:113705.0036 |
Deletion | NM_007294.4(BRCA1):c.1016del (p.Lys339fs) | BRCA1 | Pathogenic | 17 | 41246532 | 41246532 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1129&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):1135&base_change=del A,ClinGen:CA000682 |
Deletion | NM_007294.4(BRCA1):c.1018del (p.Lys339_Val340insTer) | BRCA1 | Pathogenic | 17 | 41246530 | 41246530 | AC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1137&base_change=del G,ClinGen:CA000689 |
Deletion | NM_007294.4(BRCA1):c.1121del (p.Thr374fs) | BRCA1 | Pathogenic | 17 | 41246427 | 41246427 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1240&base_change=del C,ClinGen:CA000751 |
single nucleotide variant | NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) | BRCA1 | Pathogenic | 17 | 41267761 | 41267761 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA000772 |
single nucleotide variant | NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41267761 | 41267761 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA000773 |
Deletion | NM_007294.4(BRCA1):c.1175_1215del (p.Leu392fs) | BRCA1 | Pathogenic | 17 | 41246333 | 41246373 | TTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | T | reviewed by expert panel | ClinGen:CA000778 |
Deletion | NM_007294.4(BRCA1):c.1177_1219del (p.Leu393fs) | BRCA1 | Pathogenic | 17 | 41246329 | 41246371 | GCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA | G | reviewed by expert panel | ClinGen:CA000780 |