Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000059.4(BRCA2):c.9711del (p.Lys3238fs) | BRCA2 | Likely pathogenic | 13 | 32972360 | 32972360 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000059.4(BRCA2):c.9706A>T (p.Lys3236Ter) | BRCA2 | Pathogenic | 13 | 32972356 | 32972356 | A | T | criteria provided, multiple submitters, no conflicts | - |
Insertion | NM_000059.4(BRCA2):c.9704_9705insG (p.Lys3236fs) | BRCA2 | Pathogenic | 13 | 32972354 | 32972355 | C | CG | reviewed by expert panel | - |
Deletion | NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32972347 | 32972350 | TTGTA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):9927&base_change=del TATG,ClinGen:CA026270 |
Deletion | NM_000059.4(BRCA2):c.9693del (p.Leu3232fs) | BRCA2 | Pathogenic | 13 | 32972343 | 32972343 | CA | C | criteria provided, single submitter | - |
Deletion | NM_000059.4(BRCA2):c.9689del (p.Leu3230fs) | BRCA2 | Pathogenic | 13 | 32972337 | 32972337 | CT | C | reviewed by expert panel | ClinGen:CA6941439 |
Deletion | NM_000059.4(BRCA2):c.9682del (p.Ser3228fs) | BRCA2 | Pathogenic | 13 | 32972330 | 32972330 | CA | C | reviewed by expert panel | ClinGen:CA026267 |
Deletion | NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs) | BRCA2 | Pathogenic | 13 | 32972325 | 32972325 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):9904&base_change=del T,ClinGen:CA026265 |
Duplication | NM_000059.4(BRCA2):c.9674dup (p.Tyr3225Ter) | BRCA2 | Pathogenic | 13 | 32972323 | 32972324 | T | TA | reviewed by expert panel | ClinGen:CA10586598 |
Deletion | NM_000059.4(BRCA2):c.9672del (p.Tyr3225fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32972322 | 32972322 | TA | T | criteria provided, multiple submitters, no conflicts | - |