Table 1: BRCA1/2 mutations from nine human cell lines.
Sample ID | Gene | Exon/intron | HGVS ID, cDNA | Amino acid change | Allele frequency | Interpretation |
HCC1395 | BRCA1 | ex 20 | NM_007294.3:c.5251C > T | R1751* | 0.940 | 5-Pathogenic |
HCC1569 | BRCA2 | ex 11 | NM_000059.3:c.5583del | V1862* | 0.230 | 5-Pathogenic |
HCC1937 | BRCA1 | ex 20 | NM_007294.3:c.5266dup | E1756fs*74 | 0.990 | 5-Pathogenic |
MDA-MB-436 | BRCA1 | in 20 | NM_007294.3:c.5277+1G > A | N/A | 0.997 | 5-Pathogenic |
BT474 | BRCA2 | ex 25 | NM_000059.3:c.9281C > A | S3094* | 0.660 | 5-Pathogenic |
CAL51 | BRCA2 | ex 11 | NM_000059.3:c.2957del | N986 fs*5 | 0.220 | 5-Pathogenic |
LS180 | BRCA2 | ex 23 | NM_000059.3:c.9097del | T3033fs*29 | 0.530 | 5-Pathogenic |
HCT116 | BRCA2 | ex 18 | NM_000059.3:c.8021dup | I2675fs*6 | 0.480 | 5-Pathogenic |
HCT15 | BRCA2 | ex 11 | NM_000059.3:c.3599_3600del & NM_000059.3:c.5351del |
C1200* & N1784 fs*7 | 0.280 0.490 |
5-Pathogenic 5-Pathogenic |