Table 2: BRCA1/2 mutations from 100 breast cancer patients.
Sample ID |
Gene |
Exon/intron |
HGVS ID, cDNA |
Amino acid change |
Allele frequency |
Interpretation |
Case#01 |
BRCA2 |
ex16 |
NM_000059.3:c.7672G > C |
E2558Q |
0.051 |
3-VUS |
Case#02 |
BRCA1 BRCA2 |
ex11 ex10 |
NM_007294.3:c.2566T > C NM_000059.3:c.1362A > G |
Y856H K454K |
0.487 0.405 |
1-non-pathogenic 1-non-pathogenic |
Case#03 |
BRCA1 |
ex11 |
NM_007294.3:c.2566T > C |
Y856H |
0.577 |
1-non-pathogenic |
Case#05 |
BRCA1 |
ex11 ex9 |
NM_007294.3:c.2566T > C NM_007294.3:c.571G > A |
Y856H V191I |
0.503 0.514 |
1-non-pathogenic 1-non-pathogenic |
Case#07 |
BRCA2 |
ex11 |
NM_000059.3:c.5785A > G NM_000059.3:c.6148G > A |
I1929V V2050I |
0.472 0.511 |
1-non-pathogenic 1-non-pathogenic |
Case#10 |
BRCA2 |
ex18 |
NM_000059.3:c.8187G > T |
K2729N |
0.448 |
1-non-pathogenic |
Case#16 |
BRCA2 |
ex11 |
NM_000059.3:c.4148_4149del NM_007294.3:c.2566T > C |
D1383 fs*19 Y856H |
0.334 0.495 |
5-Pathogenic 1-non-pathogenic |
Case#25 |
BRCA2 |
ex11 |
NM_000059.3:c.3473A > G NM_000059.3:c.5590G > A |
E1158G D1864N |
0.463 0.465 |
3-VUS 3-VUS |
Case#26 |
BRCA1 |
ex16 |
NM_007294.3:c.4883T > C |
M1628T |
0.500 |
1-non-pathogenic |
Case#28 |
BRCA1 |
ex11 |
NM_007294.3:c.3739G > A |
V1247I |
0.536 |
1-non-pathogenic |
Case#31 |
BRCA2 |
ex11 |
NM_000059.3:c.3420T > C |
S1140S |
0.378 |
1-non-pathogenic |
Case#33 |
BRCA2 |
ex11 |
NM_000059.3:c.6402_6406del |
N2134fs*3 |
0.331 |
5-Pathogenic |
Case#34 |
BRCA2 |
ex11 |
NM_000059.3:c.5345A > G |
Q1782R |
0.506 |
3-VUS |
Case#36 |
BRCA2 |
ex25 |
NM_000059.3:c.9382C > T |
R3128* |
0.601 |
5-Pathogenic |
Case#39 |
BRCA2 |
ex11 |
NM_000059.3:c.6598T > C |
F2200L |
0.488 |
3-VUS |
Case#43 |
BRCA1 |
ex11 |
NM_007294.3:c.2566T > C |
Y856H |
0.737 |
1-non-pathogenic |
Case#47 |
BRCA2 |
ex11 |
NM_000059.3:c.4151del |
D1384fs*4 |
0.327 |
5-Pathogenic |
Case#96 |
BRCA1 |
ex08 |
NM_007294.3:c.446A > C |
E149A |
0.491 |
3-VUS |
Case#53 |
BRCA2 |
ex18 |
NM_000059.3:c.8187G > T |
K2729N |
0.401 |
1-non-pathogenic |
Case#59 |
BRCA1 |
ex11 |
NM_007294.3:c.2566T > C NM_000059.3:c.5199C > T |
Y856H S1733S |
0.411 0.605 |
1-non-pathogenic 1-non-pathogenic |
Case#61 |
BRCA1 |
ex16 |
NM_007294.3:c.4787C > T |
S1596L |
0.414 |
3-VUS |
Case#62 |
BRCA2 |
ex10 ex11 |
NM_000059.3:c.1399A > T NM_000059.3:c.6382A > G |
K467* K2128E |
0.488 0.510 |
5-Pathogenic 2-likely-non-pathogenic |
Case#65 |
BRCA2 |
ex18 |
NM_000059.3:c.8187G > T |
K2729N |
0.353 |
1-non-pathogenic |
Case#67 |
BRCA2 |
ex20 |
NM_000059.3:c.8500A > G |
T2834A |
0.658 |
3-VUS |
Case#70 |
BRCA2 |
ex11 ex10 |
NM_000059.3:c.2175dup NM_000059.3:c.1568A > G |
K726 fs*25 H523R |
0.200 0.494 |
5-Pathogenic 3-VUS |
Case#74 |
BRCA1 |
ex11 |
NM_007294.3:c.2566T > C |
Y856H |
0.265 |
1-non-pathogenic |
Case#78 |
BRCA1 |
ex11 |
NM_007294.3:c.2566T > C |
Y856H |
0.494 |
1-non-pathogenic |
Case#80 |
BRCA2 |
ex11 |
NM_000059.3:c.2806_2809del NM_000059.3:c.5785A > G |
D938 fs*21 I1929V |
0.765 0.236 |
5-Pathogenic 1-non-pathogenic |
Case#82 |
BRCA2 |
ex08 |
NM_000059.3:c.644_646del |
E215del |
0.558 |
3-VUS |
Case#84 |
BRCA2 |
ex18 |
NM_000059.3:c.8187G > T |
K2729N |
0.485 |
1-non-pathogenic |
Case#86 |
BRCA1 |
ex16-17 |
NM_007294.3:c.4676_5074del |
E1559_T1691del |
0.800 |
5-Pathogenic |
Case#95 |
BRCA2 BRCA1 |
ex18 ex11 |
NM_000059.3:c.8329A > G NM_007294.3:c.837T > C |
K2777E H279H |
0.498 0.495 |
3-VUS 3-VUS |
Case#98 |
BRCA2 |
ex10 |
NM_000059.3:c.1211A > G |
N404S |
0.436 |
3-VUS |
Case#100 |
BRCA2 BRCA1 |
ex13 ex11 |
NM_000059.3:c.6952C > T NM_007294.3:c.3739G > A |
R2318* V1247I |
0.085 0.607 |
5-Pathogenic 1-non-pathogenic |