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.8084C>G (p.Ser2695Ter) | BRCA2 | Pathogenic | 13 | 32937423 | 32937423 | C | G | reviewed by expert panel | ClinGen:CA025443 |
single nucleotide variant | NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter) | BRCA2 | Pathogenic | 13 | 32937426 | 32937426 | T | A | reviewed by expert panel | ClinGen:CA025447 |
Deletion | NM_000059.4(BRCA2):c.8087del (p.Ser2695_Leu2696insTer) | BRCA2 | Pathogenic | 13 | 32937425 | 32937425 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):8315&base_change=del T,ClinGen:CA025446 |
single nucleotide variant | NM_000059.4(BRCA2):c.809C>G (p.Ser270Ter) | BRCA2 | Pathogenic | 13 | 32906424 | 32906424 | C | G | reviewed by expert panel | ClinGen:CA025454 |
Deletion | NM_000059.4(BRCA2):c.8130del (p.Ser2710fs) | BRCA2 | Pathogenic | 13 | 32937469 | 32937469 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):8358&base_change=del T,ClinGen:CA025465 |
single nucleotide variant | NM_000059.4(BRCA2):c.8140C>T (p.Gln2714Ter) | BRCA2 | Pathogenic | 13 | 32937479 | 32937479 | C | T | reviewed by expert panel | ClinGen:CA025469 |
single nucleotide variant | NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) | BRCA2 | Pathogenic | 13 | 32937506 | 32937506 | G | C | reviewed by expert panel | ClinGen:CA025482 |
single nucleotide variant | NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) | BRCA2 | Pathogenic | 13 | 32937507 | 32937507 | A | C | reviewed by expert panel | ClinGen:CA025483 |
single nucleotide variant | NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val) | BRCA2 | Likely pathogenic | 13 | 32937510 | 32937510 | G | T | criteria provided, single submitter | ClinGen:CA025486 |
Duplication | NM_000059.4(BRCA2):c.8172_8175dup (p.Tyr2726fs) | BRCA2 | Pathogenic | 13 | 32937507 | 32937508 | A | ATGGG | reviewed by expert panel | ClinGen:CA025489 |