Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000059.4(BRCA2):c.9772_9775del (p.Glu3258fs) | BRCA2 | Pathogenic | 13 | 32972421 | 32972424 | AAGAG | A | criteria provided, single submitter | - |
Deletion | NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32972419 | 32972420 | GAA | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000059.4(BRCA2):c.9766_9770del (p.Glu3256fs) | BRCA2 | Likely pathogenic | 13 | 32972416 | 32972420 | GGAGAA | G | criteria provided, single submitter | ClinGen:CA658683834 |
Deletion | NM_000059.4(BRCA2):c.9770_9773del (p.Lys3257fs) | BRCA2 | Pathogenic | 13 | 32972417 | 32972420 | GAGAA | G | reviewed by expert panel | ClinGen:CA026293 |
Deletion | NM_000059.4(BRCA2):c.9753del (p.Lys3251fs) | BRCA2 | Pathogenic | 13 | 32972403 | 32972403 | AG | A | reviewed by expert panel | ClinGen:CA10575936 |
Duplication | NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs) | BRCA2 | Pathogenic | 13 | 32972396 | 32972397 | C | CT | reviewed by expert panel | ClinGen:CA10589573 |
single nucleotide variant | NM_000059.4(BRCA2):c.9739C>T (p.Gln3247Ter) | BRCA2 | Pathogenic | 13 | 32972389 | 32972389 | C | T | reviewed by expert panel | ClinGen:CA10589572 |
Deletion | NM_000059.4(BRCA2):c.9728del (p.Pro3243fs) | BRCA2 | Pathogenic | 13 | 32972377 | 32972377 | AC | A | reviewed by expert panel | ClinGen:CA026286 |
Insertion | NM_000059.4(BRCA2):c.9716_9717insAT (p.Val3240fs) | BRCA2 | Pathogenic | 13 | 32972366 | 32972367 | C | CAT | reviewed by expert panel | - |
Insertion | NM_000059.4(BRCA2):c.9717_9718insAT (p.Val3240fs) | BRCA2 | Pathogenic | 13 | 32972366 | 32972367 | C | CTA | criteria provided, single submitter | ClinGen:CA10579843 |