Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000059.4(BRCA2):c.3847del (p.Thr1282_Val1283insTer) | BRCA2 | Pathogenic | 13 | 32912339 | 32912339 | TG | T | reviewed by expert panel | ClinGen:CA018939 |
Deletion | NM_000059.4(BRCA2):c.3849_3852del (p.Ser1284fs) | BRCA2 | Pathogenic | 13 | 32912339 | 32912342 | TGTAA | T | reviewed by expert panel | ClinGen:CA018955 |
Deletion | NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer) | BRCA2 | Pathogenic | 13 | 32912346 | 32912347 | GAA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):4087&base_change=del AA,ClinGen:CA018979 |
Deletion | NM_000059.4(BRCA2):c.3860_3863del (p.Asn1287fs) | BRCA2 | Pathogenic | 13 | 32912350 | 32912353 | AAAAT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):4088&base_change=del ATAA,ClinGen:CA018990 |
Deletion | NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) | BRCA2 | Pathogenic | 13 | 32912346 | 32912346 | GA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):4082&base_change=del A,Breast Cancer Information Core (BIC) (BRCA2):4088&base_change=del A,ClinGen:CA018995 |
Duplication | NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs) | BRCA2 | Pathogenic | 13 | 32912345 | 32912346 | G | GA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):4088&base_change=ins A,ClinGen:CA018986 |
Duplication | NM_000059.4(BRCA2):c.3863dup (p.Asn1288fs) | BRCA2 | Pathogenic | 13 | 32912353 | 32912354 | T | TA | reviewed by expert panel | ClinGen:CA019002 |
Deletion | NM_000059.4(BRCA2):c.3866_3867del (p.Lys1289fs) | BRCA2 | Pathogenic | 13 | 32912357 | 32912358 | TAA | T | reviewed by expert panel | ClinGen:CA019031 |
single nucleotide variant | NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter) | BRCA2 | Pathogenic | 13 | 32912363 | 32912363 | C | T | reviewed by expert panel | ClinGen:CA019043 |
single nucleotide variant | NM_000059.4(BRCA2):c.3881T>A (p.Leu1294Ter) | BRCA2 | Pathogenic | 13 | 32912373 | 32912373 | T | A | reviewed by expert panel | ClinGen:CA019063 |