Table 1.
Observed Frequency of Allele Drop Out Using the Abbott/Celera CF Reagents
| Allele dropped out (common name)* | Observed frequency | Sequencing data (observed frequency)* | Ethnicity (observed frequency) | Overall frequency in population screened |
|---|---|---|---|---|
| c.3718-2477C>T (3849 + 10kb C>T) | 19 | c.3718-2530A>G homozygote (13) | African-American (14), Hispanic (2), Haitian (1), Liberian (1), not given (1) | 1.9 × 10−5 |
| c.1558G>T (V520F) | 6 | p.V520I homozygote (2) | Asian (2), Caucasian (1), not given (3) | 0.6 × 10−5 |
| c.948delT (1078delT)† | 3 | p.L320V homozygote (1), p.Y301C/p.L320V(1) | Caucasian (2), not given (1) | 0.3 × 10−5 |
| c.1364C>A (A455E) | 2 | Not performed | African-American (1), Asian (1) | 0.2 × 10−5 |
| c.1040G>C (R347P) | 1 | p.A349V/p.A300G (1) | Caucasian (1) | 0.1 × 10−5 |
| c.2052delA (2184delA) | 1 | p.S686Y homozygote | Ashkenazi Jewish | 0.1 × 10−5 |
| c.3846G>A (W1282X) | 1 | p.A1285V homozygote | Asian Indian | 0.1 × 10−5 |
| c.350G>A (R117H) | 1 | c.492G>A homozygote | African (Sierra Leone) | 0.1 × 10−5 |
| c.254G>A (G85E) | 1 | Not performed | Not given | 0.1 × 10−5 |
| c.489 + 1G>T (621 + 1G>T) | 1 | Not performed | Not given | 0.1 × 10−5 |
| c.2657 + 5G>A (2789 + 5G>A) | 1 | Not performed | Not given | 0.1 × 10−5 |
*
All cDNA sequence change nomenclature is based on the GenBank cDNA reference sequence NM_000492.3.
†
c.948delT (1078delT) was removed from the ACOG/ACMG panel in 2004, but is still present in the Abbott/Celera reagents.