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.2800C>T (p.Gln934Ter) | BRCA1 | Pathogenic | 17 | 41244748 | 41244748 | G | A | reviewed by expert panel | ClinGen:CA001836 |
Deletion | NM_007294.4(BRCA1):c.2805del (p.Asp936fs) | BRCA1 | Pathogenic | 17 | 41244743 | 41244743 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2924&base_change=del A,ClinGen:CA001837 |
Deletion | NM_007294.4(BRCA1):c.2808_2811del (p.Lys937fs) | BRCA1 | Pathogenic | 17 | 41244737 | 41244740 | GCTTA | G | reviewed by expert panel | ClinGen:CA001840 |
Deletion | NM_007294.4(BRCA1):c.2812_2813del (p.Pro938fs) | BRCA1 | Pathogenic | 17 | 41244735 | 41244736 | TGG | T | reviewed by expert panel | ClinGen:CA001843 |
Indel | NM_007294.4(BRCA1):c.2812_2813delinsG (p.Pro938fs) | BRCA1 | Pathogenic | 17 | 41244735 | 41244736 | GG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2931&base_change=del CC ins G,ClinGen:CA001844 |
Deletion | NM_007294.4(BRCA1):c.2830del (p.Cys944fs) | BRCA1 | Pathogenic | 17 | 41244718 | 41244718 | CA | C | reviewed by expert panel | ClinGen:CA001847 |
single nucleotide variant | NM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter) | BRCA1 | Pathogenic | 17 | 41244716 | 41244716 | A | T | reviewed by expert panel | ClinGen:CA001848 |
Deletion | NM_007294.4(BRCA1):c.2834_2835del (p.Ser945fs) | BRCA1 | Pathogenic | 17 | 41244713 | 41244714 | TAC | T | reviewed by expert panel | ClinGen:CA001850 |
Indel | NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs) | BRCA1 | Pathogenic | 17 | 41244712 | 41244714 | TAC | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2953&base_change=del GTA ins C,ClinGen:CA001852 |
Duplication | NM_007294.4(BRCA1):c.2835dup (p.Ile946fs) | BRCA1 | Pathogenic | 17 | 41244712 | 41244713 | T | TA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2954&base_change=ins T,ClinGen:CA001853 |