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家族性膵がん
腫瘍性疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.2241dup (p.Lys748fs) | BRCA1 | Pathogenic | 17 | 41245306 | 41245307 | T | TG | reviewed by expert panel | ClinGen:CA001499 |
| Deletion | NM_007294.4(BRCA1):c.2248_2252del (p.Leu750fs) | BRCA1 | Pathogenic | 17 | 41245296 | 41245300 | CATGAG | C | reviewed by expert panel | ClinGen:CA001507 |
| Deletion | NM_007294.4(BRCA1):c.224_227del (p.Glu75fs) | BRCA1 | Pathogenic | 17 | 41256959 | 41256962 | ACTTT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):343&base_change=del AAAG,ClinGen:CA001501 |
| Deletion | NM_007294.4(BRCA1):c.2253_2254del (p.Met751fs) | BRCA1 | Pathogenic | 17 | 41245294 | 41245295 | AAC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2372&base_change=del GT,ClinGen:CA001509 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) | BRCA1 | Pathogenic | 17 | 41245285 | 41245285 | C | A | reviewed by expert panel | ClinGen:CA001514 |
| Deletion | NM_007294.4(BRCA1):c.2263del (p.Glu755fs) | BRCA1 | Pathogenic | 17 | 41245285 | 41245285 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2382&base_change=del G,ClinGen:CA001513 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2275C>T (p.Gln759Ter) | BRCA1 | Pathogenic | 17 | 41245273 | 41245273 | G | A | reviewed by expert panel | ClinGen:CA001519 |
| Deletion | NM_007294.4(BRCA1):c.2283_2284del (p.Arg762fs) | BRCA1 | Pathogenic | 17 | 41245264 | 41245265 | CTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2402&base_change=del AA,ClinGen:CA001523 |
| Duplication | NM_007294.4(BRCA1):c.2292_2310dup (p.Leu771delinsArgGluTer) | BRCA1 | Pathogenic | 17 | 41245237 | 41245238 | A | ATGAAATACTGCTACTCTCT | reviewed by expert panel | ClinGen:CA327804 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter) | BRCA1 | Pathogenic | 17 | 41245255 | 41245255 | C | A | reviewed by expert panel | ClinGen:CA001525 |
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