Table 1.
Nonsense and frameshift PALB2 variants identified in 1,240 probands participating in the clinic-based resource of the BCFR
| Nucleotide changea | Protein change | rs numberb | LOVDc | Frequency (n = 1,240) | % | |
|---|---|---|---|---|---|---|
| Nonsense | PALB2:c.1984A>T | p.K662* | – | No | 1 | 0.08 |
| PALB2:c.2108T>G | p.L703* | – | No | 1 | 0.08 | |
| PALB2:c.3113G>A | p.W1038* | rs180177132 | Yes | 1 | 0.08 | |
| Frameshift | PALB2:c.172_175del | p.Q60fs | – | Yes | 1 | 0.08 |
| PALB2:c.1546delA | p.R516fs | – | Yes | 1 | 0.08 | |
| PALB2:c.2120delC | p.P707fs | – | No | 1 | 0.08 | |
| PALB2:c.2325dupA | p.F776fs | – | No | 1 | 0.08 | |
| PALB2:c.3426dupA | p.L1143fs | – | No | 2 | 0.16 |
a
Number based on transcript sequence LRG_308; NM_024675.3, +1 as A of ATG start codon
b
rs number from dbSNP v.137
c
Present (yes) or absent (no) from the LOVD v.2.0 Build 36, PALB2 version 140217 [29]
The asterisk describes the stop codon at protein level according to the Human Genome Variation Society (HGVS) recommendations v.2