Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000059.4(BRCA2):c.110C>G (p.Ser37Ter) | BRCA2 | Pathogenic | 13 | 32893256 | 32893256 | C | G | reviewed by expert panel | ClinGen:CA10589010 |
single nucleotide variant | NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter) | BRCA2 | Pathogenic | 13 | 32893272 | 32893272 | T | A | reviewed by expert panel | ClinGen:CA10589011 |
Deletion | NM_000059.4(BRCA2):c.127_128del (p.Asn43fs) | BRCA2 | Pathogenic | 13 | 32893273 | 32893274 | TAA | T | reviewed by expert panel | ClinGen:CA10589012 |
Duplication | NM_000059.4(BRCA2):c.201_202dup (p.Lys68fs) | BRCA2 | Pathogenic | 13 | 32893346 | 32893347 | G | GGA | reviewed by expert panel | ClinGen:CA10589013 |
Duplication | NM_000059.4(BRCA2):c.212dup (p.Tyr71Ter) | BRCA2 | Pathogenic | 13 | 32893357 | 32893358 | T | TA | reviewed by expert panel | ClinGen:CA10589014 |
Insertion | NM_000059.4(BRCA2):c.224_225insA (p.Ser76fs) | BRCA2 | Pathogenic | 13 | 32893370 | 32893371 | C | CA | reviewed by expert panel | ClinGen:CA10589015 |
single nucleotide variant | NM_000059.4(BRCA2):c.247G>T (p.Glu83Ter) | BRCA2 | Pathogenic | 13 | 32893393 | 32893393 | G | T | reviewed by expert panel | ClinGen:CA10589016 |
Deletion | NM_000059.4(BRCA2):c.250del (p.Gln84fs) | BRCA2 | Pathogenic | 13 | 32893396 | 32893396 | GC | G | reviewed by expert panel | ClinGen:CA10589018 |
Deletion | NM_000059.4(BRCA2):c.271_272del (p.Tyr91fs) | BRCA2 | Pathogenic | 13 | 32893417 | 32893418 | GTA | G | reviewed by expert panel | ClinGen:CA10589019 |
Deletion | NM_000059.4(BRCA2):c.368_372del (p.Lys123fs) | BRCA2 | Pathogenic | 13 | 32899264 | 32899268 | AAAATG | A | reviewed by expert panel | ClinGen:CA10589020 |