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Table 1 PALB2 variants identified in female participants of the kConFab resource.

From: Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

  Nucleotide change Protein change rs number Frequency (n= 747) % References
Exonic variants       
Nonsense c.196C>T p. Gln66* rs180177083 1 0.1 Casadei et al. [38];
Wong et al. [39]
  c.3113G>A p.Trp1038* rs180177132 7 0.9 Rahman et al. [8];
Casadei et al. [38];
Wong et al. [39]
Frameshift c.1947_1948insA p. Glu650fs*13 - 1 0.1 -
  c.2982_2983insT p. Ala995fs*16 rs180177127 1 0.1 Rahman et al. [8];
Bogdanova et al.[70]
Missense c.90G>T p.Lys30Asn - 1 0.1 -
  c.94C>G p.Leu32Val rs151316635 1 0.1 -
  c.596A>G p.Asp219Gly rs45594034 1 0.1 Rahman et al. [8];
Hellebrand et al. [40];
Dansonka-Mieskowska et al.[61]
  c.956C>A p.Ser319Tyr - 1 0.1 -
  c.1010T>C p.Leu337Ser rs45494092 25 3.3 Rahman et al. [8];
Hellebrand et al. [40];
  c.1475G>T p.Gly492Val - 1 0.1 -
  c.1676A>G p.Gln559Arg rs152451 72 9.6 Rahman et al. [8];
Hellebrand et al. [40];
Garcia et al. [63];
Bogdanova et al.[70]
  c.2014G>C p.Glu672Gln rs45532440 51 6.8 Rahman et al. [8];
Hellebrand et al. [40];
Garcia et al. [63];
Bogdanova et al.[70].;
Dansonka-Mieskowska et al.[61]
  c.2590C>T p.Pro864Ser rs45568339 1 0.1 Rahman et al. [8];
Hellebrand et al. [40];
Garcia et al. [63];
  c.2993G>A p.Gly998glu rs45551636 17 2.3 Rahman et al. [8];
Hellebrand et al. [40];
Garcia et al. [63];
Bogdanova et al.[70]
Synonymous c.1431C>T p.Thr477Thr - 1 0.1 -
  c.1470C>T p.Pro490Pro rs45612837 1 0.1 Rahman et al. [8];
Bogdanova et al.[70]
  c.1572A>G p.Ser524Ser rs45472400 4 0.5 Rahman et al. [8];
Hellebrand et al. [40];
Garcia et al. [63];
Bogdanova et al.[70]
  c.1935G>A p.Glu645Glu rs141707455 1 0.1 Hellebrand et al. [40];
  c.2469C>A p.Leu823Leu - 1 0.1 -
  c.2823C>A p.Ile941Ile - 1 0.1 -
  c.3300T>G p.Thr1100Thr rs45516100 45 6 Rahman et al. [8];
Hellebrand et al. [40];
Erkko et al. [71];
Garcia et al. [63];
Bogdanova et al.[70]
Dansonka-Mieskowska et al.[61]
  c.3321G>A p.Leu1107Leu - 1 0.1 -
Intronic
variants
      
  c.-47G>A - rs8053188 17 2.3 Hellebrand et al. [40];
Garcia et al. [63];
  c.212-58A>C - rs80291632 37 5 Garcia et al. [63];
Dansonka-Mieskowska et al.[61]
  c.1684+41_42insTGA - - 2 0.3 -
  c.2834+12C>T - - 1 0.1 -