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 |