Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000059.4(BRCA2):c.729_732del (p.Asn243fs) | BRCA2 | Pathogenic | 13 | 32905103 | 32905106 | ATGAT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):957&base_change=del TGAT,ClinGen:CA025015 |
single nucleotide variant | NM_000059.4(BRCA2):c.7303C>T (p.Gln2435Ter) | BRCA2 | Pathogenic | 13 | 32929293 | 32929293 | C | T | reviewed by expert panel | ClinGen:CA025020 |
Deletion | NM_000059.4(BRCA2):c.7322del (p.Gly2441fs) | BRCA2 | Pathogenic | 13 | 32929311 | 32929311 | TG | T | reviewed by expert panel | ClinGen:CA025029 |
single nucleotide variant | NM_000059.4(BRCA2):c.733A>T (p.Arg245Ter) | BRCA2 | Pathogenic | 13 | 32905107 | 32905107 | A | T | reviewed by expert panel | ClinGen:CA025035 |
Deletion | NM_000059.4(BRCA2):c.7360del (p.Ile2454fs) | BRCA2 | Pathogenic | 13 | 32929350 | 32929350 | GA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):7588&base_change=del A,ClinGen:CA025043 |
single nucleotide variant | NM_000059.4(BRCA2):c.7375A>T (p.Lys2459Ter) | BRCA2 | Pathogenic | 13 | 32929365 | 32929365 | A | T | reviewed by expert panel | ClinGen:CA025046 |
Deletion | NM_000059.4(BRCA2):c.7379del (p.Asn2460fs) | BRCA2 | Pathogenic | 13 | 32929365 | 32929365 | CA | C | reviewed by expert panel | ClinGen:CA025050 |
Deletion | NM_000059.4(BRCA2):c.7408_7409del (p.Phe2470fs) | BRCA2 | Pathogenic | 13 | 32929397 | 32929398 | CTT | C | reviewed by expert panel | ClinGen:CA025058 |
Duplication | NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs) | BRCA2 | Pathogenic | 13 | 32929396 | 32929397 | C | CT | reviewed by expert panel | ClinGen:CA025059 |
single nucleotide variant | NM_000059.4(BRCA2):c.7436-2A>T | BRCA2 | Pathogenic | 13 | 32930563 | 32930563 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA025085 |