Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Insertion | NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs) | BRCA1 | Pathogenic | 17 | 41244935 | 41244936 | C | CA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2731&base_change=ins T,ClinGen:CA001717 |
Indel | NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs) | BRCA1 | Pathogenic | 17 | 41244936 | 41244936 | G | AA | reviewed by expert panel | ClinGen:CA327824 |
Duplication | NM_007294.4(BRCA1):c.2612dup (p.Phe872fs) | BRCA1 | Pathogenic | 17 | 41244935 | 41244936 | C | CG | reviewed by expert panel | ClinGen:CA327825 |
Duplication | NM_007294.4(BRCA1):c.2617dup (p.Ser873fs) | BRCA1 | Pathogenic | 17 | 41244930 | 41244931 | G | GA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2735&base_change=ins T,ClinGen:CA001723 |
single nucleotide variant | NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter) | BRCA1 | Pathogenic | 17 | 41244907 | 41244907 | C | A | reviewed by expert panel | ClinGen:CA001732 |
Deletion | NM_007294.4(BRCA1):c.2643del (p.Glu881fs) | BRCA1 | Pathogenic | 17 | 41244905 | 41244905 | AT | A | reviewed by expert panel | ClinGen:CA001733 |
Deletion | NM_007294.4(BRCA1):c.2646_2648del (p.Cys882_Ala883delinsTer) | BRCA1 | Pathogenic | 17 | 41244900 | 41244902 | TGCA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2765&base_change=del TGC,ClinGen:CA001734 |
Insertion | NM_007294.4(BRCA1):c.2659_2660insA (p.Ala887fs) | BRCA1 | Pathogenic | 17 | 41244888 | 41244889 | G | GT | reviewed by expert panel | ClinGen:CA001741 |
Duplication | NM_007294.4(BRCA1):c.2659dup (p.Ala887fs) | BRCA1 | Pathogenic | 17 | 41244888 | 41244889 | G | GC | reviewed by expert panel | ClinGen:CA327828 |
Duplication | NM_007294.4(BRCA1):c.2665dup (p.Ser889fs) | BRCA1 | Pathogenic | 17 | 41244882 | 41244883 | G | GA | reviewed by expert panel | ClinGen:CA327829 |