From: Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families
 | Nucleotide change | Protein change | rs number | Frequency (n= 747) | % | References |
---|---|---|---|---|---|---|
Exonic variants | Â | Â | Â | Â | Â | Â |
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 | Â | Â | Â | Â | Â | Â |
 | 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 | - |