Table 2 Pathogenic variants detected by BRCA Panel
Gene | Transcript | Locus | Exon | Intron | Frequency | Quality | Coding | Protein | Function | dbSNP | Clinical Significance | Enigma Classification | No. of Patients |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRCA1 | NM_007294.3 | chr17:41245972 | 10 | – | 47.1 | 1980.35 | c.1576C > T | p.Gln526Ter | Nonsense | rs80356984 | Pathogenic | C 5 | 1 |
BRCA1 | NM_007294.3 | chr17:41234451 | 12 | – | 47 | 410.40 | c.4327C > T | p.Arg1443Ter | Nonsense | rs41293455 | Pathogenic | C 5 | 1 |
BRCA1 | NM_007294.3 | chr17:41215920 | 17 | – | 50 | 533.95 | c.5123C > A | p.Ala1708Glu | Missense | rs28897696 | Pathogenic | C 5 | 1 |
BRCA1 | NM_007294.3 | chr17:41201198 | 21 | – | 43.2 | 387.66 | c.5346G > A | p.Trp1782Ter | Nonsense | rs80357284 | Pathogenic | C 5 | 1 |
BRCA1 | NM_007294.3 | chr17:41246724 | 9 | – | 43.4 | 242.36 | c.682_683insAGCCATGTGG | p.Gly228Glufs*15 | Frameshift | – | Pathogenic | C 5 | 1 |
BRCA1 | NM_007294.3 | chr17:41197819–41203079 | 21–22 | – | – | – | **c.5278-?_5406 +?dup | p.? | Duplication | – | Pathogenic | C5 | 1 |
BRCA1 | NM_007294.3 | chr17:41215390–41222944 | 16–17 | – | – | – | **c.4676-?_5074 +?del | p.? | Deletion | – | Pathogenic | C5 | 3 |
BRCA1 | NM_007294.3 | chr17:41228631–41249260 | 9–12 | – | – | – | ** c.548-?_4185 +?del | p.? | Deletion | – | Pathogenic | C5 | 3 |
BRCA1 | NM_007294.3 | chr17:41267796–41278345 | P-2 | – | – | – | **c.-716-?_80 +?del | p.? | Deletion | – | Pathogenic | C5 | 1 |
BRCA2 | NM_000059.3 | chr13:32945092 | – | 19 | 38.5 | 1538.41 | c.8488-1G > A | p.? | Splice Acceptor Site | rs397507404 | Pathogenic | C5 | 1 |
BRCA2 | NM_000059.3 | chr13:32954050 | 23 | – | 81.8 | 450.72 | c.9117G > A | p.Pro3039= | synonymous | rs28897756 | Pathogenic | C5 | 1 |
BRCA2 | NM_000059.3 | chr13:32944584 | 12 | – | 49.6 | 503.98 | *c.8377G > A | p.Gly2793Arg | Missense | rs80359082 | Pathogenic | C5 | 1 |