ID | HGVS cDNA | HGVS protein | ACMG Classification | Variant Type | Age Ranges | Histology | FIGO stage | Family Historya |
---|---|---|---|---|---|---|---|---|
BRCA1 | ||||||||
1 | c.4153_4154delCT | p.Leu1385llefs*5 | LP | F | 40-49 | S | IIIC | + |
2 | c.5074 + 2 T > C | p.? | P | Ss | 60–69 | LGSC | IIIC | + |
3 | c.211A > G | p.Arg71Gly | P | M | 40–49 | S | IIIC | + |
4 | C.4484G > T | p.Argt1495Met | P | M | 40–49 | E | IIIC | + |
5 | c.1612C > T | p.Gln538Ter | P | N | 60–69 | S | IV | + |
6 | c.3331_3334delCAAG | p.Gln1111Asnfs*5 | P | F | 40-49 | S | IIIC | + |
7 | c.3331_3334delCAAG | p.Gln1111Asnfs*5 | P | F | 30-39 | S | IIIC | + |
8 | c.3331_3334delCAAG | p.Gln1111Asnfs*5 | P | F | 50-59 | S | IIIC | + |
9 | c.5266dup | p.Gln1756Profs*74 | P | F | 60-69 | S | IV | – |
10 | c.5266dup | p.Gln1756Profs*74 | P | F | 70-79 | S | IV | + |
11 | c.5266dup | p.Gln1756Profs*74 | P | F | 40-49 | S | IIIC | + |
12 | c.5266dup | p.Gln1756Profs*74 | P | F | 50-59 | UC | IIIC | – |
13 | c.5266dup | p.Gln1756Profs*74 | P | F | 40-49 | S | IIIC | + |
14 | c.1687C > T | p.Gln563Ter | P | N | 50–59 | S | IV | – |
15 | c.67_75delGAGTGTCCC | p.Glu23_Pro25del | LP | Indel | 60–69 | S | IIIC | – |
16 | c.4117G > T | p.Glu1373Ter | P | N | 40–49 | UC | IIB | – |
17 | c.3477_3480delAAAG | p.Ile1159Metfs | P | F | 50–59 | S | IIIC | + |
18 | c.188 T > A | p.Leu63Ter | P | N | 40–49 | S | IV | + |
19 | c.1961delA | p.Lys654Serfs*47 | P | F | 60-69 | S | IIIC | + |
20 | c.3270_3273delACCT | p.Pro1091Argfs*17 | LP | F | 40-49 | S | IIIB | – |
21 | c.798_799delTT | p.Ser267Lysfs*19 | P | F | 50-59 | S | IIIC | + |
22 | c.2368A > G | p.Thr790Ala | LB | M | 30–39 | LGSC | IIIC | – |
23 | c.5558A > G | p.Tyr1853Cys | US | M | 50–59 | S | IIIC | + |
24 | c.533 T > C | p.Val178Ala | US | M | 30–39 | E | IIIC | – |
25 | c.2077_2078insTA | p.Asp693Valfs*9 | P | F | 40-49 | S | IV | + |
26 | c.1067A > G | p.Gln356Arg | B | M | 60–69 | S | IIIC | – |
27 | c.5123C > A | p.Ala1708Glu | P | M | 40–49 | S | IIIC | + |
28 | c.1066C > T | p.Gln356Ter | P | N | 50–59 | S | IV | – |
29 | c.4964C > T | p.Ser1655Phe | US | M | 40–49 | E | IIIC | + |
30 | c. 211A > G | p.Arg71Gly | P | M | 40–49 | S | IIIC | + |
31 | del exon 16 | p? | P | D | 40–49 | S | IIIC | – |
32 | c.547 + 2 T > A | p? | P | Ss | 50–59 | S | IV | – |
BRCA2 | ||||||||
33 | c.4129A > G | p.Asn1377Asp | US | M | 30–39 | S | IIIC | – |
34 | c.8488-1G > A | p.? | P | Ss | 50–59 | S | IIIC | – |
35 | c.794-22C > T | p.? | LB | Ss | 30–39 | S | IIIC | – |
36 | c.7601C > T | p.Ala2534Val | LB | M | 60–69 | CC | IV | + |
37 | c.323A > G | p.Asn108Ser | US | M | 70–79 | S | IIIC | |
38 | c.6491_6494delAGTT | p.Gln2164Argfs*3 | P | F | 50–59 | CS | IIIC | + |
39 | c.3680_3681delTG | p.Leu1227Glnfs*5 | P | F | 60-69 | S | IIIC | – |
40 | c.8878C > T | p.Gln2960Ter | P | N | 50–59 | S | IIIC | + |
41 | c.6656C > G | p.Ser2219Ter | P | N | 50–59 | S | IIIC | – |
42 | c.1792A > G | p.Thr598Ala | LB | M | 40–49 | S | IC | – |
43 | c.4928 T > C | p.Val1643Ala | LB | M | 80–89 | S | IIIC | – |
44 | c.738delT | p.Phe246Leufs*5 | LP | F | 40-49 | S | IV | – |
45 | c.9101A > G | p.Gln3034Arg | US | M | 80–89 | S | IV | + |