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Table 2 Pathogenic variants detected by BRCA Panel

From: Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case–control study

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
  1. Abbreviations: dbSNP Single Nucleotide Polymorphisms database, ENIGMA Evidence-based Network for the Interpretation of Germline Mutant Alleles, C5 Class 5 – (there is significant evidence to suggest that this variant is a dominant high-risk pathogenic variant
  2. *Pathogenic variants on control group
  3. **Detected by MLPA method