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Table 2 Clearly pathogenic and possibly pathogenic BRCA1 mutations identified

From: Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1gene in Sri Lankan breast cancer patients and at risk individuals

E/I NT Base Change Codon AA Change Designation Variation type BIC Entry
11-A 856 T>G 246 Leu>TrP c.856T>G M-UV No
11-C 3086 delT 989 Stop999 c.3086delT F No
I-18 5194-2 A>T Non- coding -- IVS17-2A>T IVS Yes
21 5404 delG 1762 Stop1764 c.5404delG F No
  1. E/I: Exon/Intron, F: frame shift, M: missense alteration, UV: unclassified variant