Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_007294.4(BRCA1):c.848_879del (p.Ser282_Leu283insTer) | BRCA1 | Pathogenic | 17 | 41246669 | 41246700 | TAGTGAGTAATAAACTGCTGTTCTCATGCTGTA | T | reviewed by expert panel | ClinGen:CA10588656 |
Indel | NM_000059.3(BRCA2):c.48_50delinsATCGATCGAT (p.Thr17fs) | BRCA2 | Pathogenic | 13 | 32890645 | 32890647 | GAC | ATCGATCGAT | reviewed by expert panel | ClinGen:CA10589001 |
Duplication | NM_000059.4(BRCA2):c.48dup (p.Thr17fs) | BRCA2 | Pathogenic | 13 | 32890644 | 32890645 | A | AG | reviewed by expert panel | ClinGen:CA10589002 |
Deletion | NM_000059.4(BRCA2):c.52_61del (p.Arg18fs) | BRCA2 | Pathogenic | 13 | 32890646 | 32890655 | GACACGCTGCA | G | reviewed by expert panel | ClinGen:CA10589003 |
single nucleotide variant | NM_000059.4(BRCA2):c.71T>G (p.Leu24Ter) | BRCA2 | Pathogenic | 13 | 32893217 | 32893217 | T | G | reviewed by expert panel | ClinGen:CA10589004 |
single nucleotide variant | NM_000059.4(BRCA2):c.73G>T (p.Gly25Ter) | BRCA2 | Pathogenic | 13 | 32893219 | 32893219 | G | T | reviewed by expert panel | ClinGen:CA10589005 |
Duplication | NM_000059.4(BRCA2):c.103dup (p.Leu35fs) | BRCA2 | Pathogenic | 13 | 32893248 | 32893249 | A | AC | reviewed by expert panel | ClinGen:CA10589006 |
Deletion | NM_000059.4(BRCA2):c.104_110del (p.Leu35fs) | BRCA2 | Pathogenic | 13 | 32893249 | 32893255 | ACTTTCTT | A | reviewed by expert panel | ClinGen:CA10589007 |
Deletion | NM_000059.4(BRCA2):c.109_112del (p.Ser37fs) | BRCA2 | Pathogenic | 13 | 32893255 | 32893258 | TTCAG | T | reviewed by expert panel | ClinGen:CA10589008 |
single nucleotide variant | NM_000059.4(BRCA2):c.110C>A (p.Ser37Ter) | BRCA2 | Pathogenic | 13 | 32893256 | 32893256 | C | A | reviewed by expert panel | ClinGen:CA10589009 |