Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000059.4(BRCA2):c.1238del (p.Leu413fs) | BRCA2 | Pathogenic | 13 | 32906853 | 32906853 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):1466&base_change=del T,ClinGen:CA011280 |
single nucleotide variant | NM_000059.4(BRCA2):c.1253C>A (p.Ser418Ter) | BRCA2 | Pathogenic | 13 | 32906868 | 32906868 | C | A | reviewed by expert panel | ClinGen:CA011334 |
Deletion | NM_000059.4(BRCA2):c.1257del (p.Cys419fs) | BRCA2 | Pathogenic | 13 | 32906872 | 32906872 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):1485&base_change=del T,ClinGen:CA011341 |
Deletion | NM_000059.4(BRCA2):c.1265del (p.Asn422fs) | BRCA2 | Pathogenic | 13 | 32906877 | 32906877 | CA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):1493&base_change=del A,ClinGen:CA011394 |
Duplication | NM_000059.4(BRCA2):c.1593dup (p.Glu532fs) | BRCA2 | Pathogenic | 13 | 32907202 | 32907203 | T | TA | reviewed by expert panel | ClinGen:CA012525 |
Deletion | NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) | BRCA2 | Pathogenic | 13 | 32907366 | 32907370 | AAAAAG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):1983&base_change=del GAAAA,ClinGen:CA013079 |
Deletion | NM_000059.4(BRCA2):c.1794_1798del | BRCA2 | Pathogenic | 13 | 32907409 | 32907413 | CATCTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):2024&base_change=del TTTAT,Breast Cancer Information Core (BIC) (BRCA2):2022&base_change=del ATTTT,ClinGen:CA013253 |
single nucleotide variant | NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter) | BRCA2 | Pathogenic | 13 | 32907415 | 32907415 | T | A | reviewed by expert panel | ClinGen:CA013314 |
Duplication | NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) | BRCA2 | Pathogenic | 13 | 32907428 | 32907428 | G | GA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):2034&base_change=ins A,Breast Cancer Information Core (BIC) (BRCA2):2041&base_change=ins A,ClinGen:CA013353 |
Deletion | NM_000059.4(BRCA2):c.1813del (p.Ile605fs) | BRCA2 | Pathogenic | 13 | 32907421 | 32907421 | GA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):2034&base_change=del A,Breast Cancer Information Core (BIC) (BRCA2):2041&base_change=del A,ClinGen:CA013362 |