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Table 2 Found variants in the BRCA1 gene and exon 11 of the BRCA2 gene

From: Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia

Gene Fragment Number of patients Identified alteration A.A Classification of alteration Reported in databases Clinical significance –BIC
BRCA1 7 1 c.412 C > A p.Leu138Ile Non-synonymous (M) NO NA
11 2 c.4186-22G > A NA Intronic NO NA
11 2 c.2077 G > A p.Asp693Asn Non-synonymous (M) YES Neutral
11 2 c.2079 G > A p.Asp693Asp Synonymous YES Unknow
11 30 c.2082 C > T p. Ser694Ser Synonymous YES Neutral
11 2 c.2146 T > A p.Ser716Arg Non-synonymous (M) NO NA
11 13 c.2311 T > C p.Leu771Leu Synonymous YES Neutral
11 2 c.2368 A > G p.Thr790Ala Non-synonymous (M) YES Unknow
11 64 c.2612 C > T p.Pro871Leu Non-synonymous (M) YES Neutral
11 2 c.2876G > A p.Arg959Lys Non-synonymous (M) NO NA
11 3 c.3083G > A p.Arg1028His Non-synonymous (M) YES Unknow
11 27 c.3113A > G p.Glu1038Gly Non-synonymous (M) YES Neutral
11 1 c.3506A > C p.Asp1169Ala Non-synonymous (M) NO NA
11 20 c.3548A > G p.Lys1183Arg Non-synonymous (M) YES Neutral
11 1 c.3978 T > G p.His1326Gln Non-synonymous (M) NO NA
11 4 c.4033G > A p.Glu1345Lys Non-synonymous (M) NO NA
13 8 c.4308 T > C P.Ser1436Ser Synonymous YES Unknow
16 17 c.4837A > G P.Ser1613Gly Non-synonymous (M) YES Neutral
BRCA2 11.0 1 c.1909-37dup NA Intronic (IVS) NO NA
11.0 9 c.1909-33delA NA Intronic (IVS) NO NA
11.1 1 c.2147A > G p.Gln716Arg Non-synonymous (M) NO NA
11.1 2 c.2229 T > C p.His743His Synonymous (Syn) YES Neutral
11.1 1 c.2313A > T p.Leu771Phe Non-synonymous (M) NO NA
11.1 18 c.2386G > A p.Asp796Asn Non-synonymous (M) NO NA
11.1 1 C.2454 T > A p.Asn818Lys Non-synonymous (M) NO NA
11.2 1 c.2574_2575insA p.Val859Ser*22 Non-sense (N) NO NA
11.3 7 c.2971A > G p.Asn991Asp Non-synonymous (M) YES Neutral
11.3 1 c.3095ª > T p.Lys1032Ile Non-synonymous (M) NO NA
11.4 23 c.3396 T > G p.Lys1132Lys Synonymous (Syn) YES Neutral
11.5 8 c.3807 T > C p.Val1269Val Synonymous (Syn) YES Neutral
11.7 80 c.4563A > G p.Leu1521Leu Synonymous (Syn) YES Neutral
11.13 75 c.6513C > G p.Val2171Val Synonymous (Syn) YES Neutral
11.14 3 c.6841 + 80_6841 + 83delTTAA NA Intronic (IVS) YES Neutral
  1. M = misense, N = nonsense