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Table 1 PALB2 variants identified in previous screens (Sanger sequencing and HRM) or genotyping assays (Taqman probe-based), and detected via Hi-Plex

From: Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

Variant type Nucleotide changea Protein change rs number Number of carriers (detected by all used methods) Number of carriers (detected by Hi-Plex only)
Non-sense c.196C>T p.Gln66* rs180177083 2 heterozygotesb  
  c.3113G>A p.Trp1038* rs180177132 4 heterozygotesc  
Frameshift c.1947_1948insA p.Glu650fs*13 - 1 heterozygote  
  c.2982_2983insT p.Ala995fs*16 rs180177127 1 heterozygote  
Missense c.1010T>C p.Leu337Ser rs45494092 5 heterozygotesd  
  c.1676A>G p.Gln559Arg rs152451 13 heterozygotesd 1 heterozygotee,f
1 homozygote
  c.2014G>C p.Glu672Gln rs45532440 8 heterozygotes  
1 homozygote
  c.2590C>T p.Pro864Ser rs45568339 - 1 heterozygotee,g,h
  c.2993G>A p.Gly998Glu rs45551636 7 heterozygotes 1 heterozygote,e,f,g
Synonymous c.1470C>T p.Pro490Pro rs45612837 - 1 heterozygotee,h,i
  c.1572A>G p.Ser524Ser rs45472400 3 heterozygotes  
  c.3300T>G p.Thr1100Thr rs45516100 8 heterozygotes  
1 homozygote
  c.3495G>A p.Ser1165Ser - 1 heterozygote  
  1. *indicates a protein truncation event.
  2. aNumber based on transcript sequence (NM_024675), +1 as A of ATG start codon.
  3. bIncluding one sample that was genotyped by Taqman probe-based assay.
  4. cAll four samples were genotyped by Taqman probe-based assay.
  5. dIncluding duplicated sample.
  6. eConfirmed by Sanger sequencing.
  7. fPreviously screened by HRM only.
  8. gUpon HRM curve re-analysis, the variant was apparent.
  9. hUpon chromatogram re-analysis, the variant was apparent.
  10. iInitially detected by HRM, not by Sanger sequencing.
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