Table 1.

Inherited truncating mutations in PALB2

Genomic locale (hg19)ExonDNA mutationTypeRNA mutation
chrl6:23,649,207-2103c.172-175 del TTGTFrameshift
chrl6:23,649,1863c.196 C>TNonsense
chrl6:23,647,357-3584c.509-510 del GAFrameshift
chrl6:23,647,109-1104c.757–758 del CTFrameshift
chrl6:23,646,6274c.1240 C>TNonsense
chrl6:23,646,2144c.1653 T>ANonsense
chrl6:23,641,0895c.2386 G>TNonsense
chrl6:23,640,5526c.2559 C>TSplicer.2558–2586 del 29
chrl6:23,637,6187c.2686 ins TFrameshift
chrl6:23,637,5877c.2718 G>ANonsense
chrl6:23,634,364-3659c.2920-2921 del AAFrameshift
chrl6:23,632,77010c.3026 del CFrameshift
chrl6:23,632,68310c.3113 G>ASplice(a) r.2997-3113 del 117
(b) r.3083-3113 del 31
(c) –
Protein mutationStop codonFrequency of cases (n = 972)aFrequency of controls (n = 960)Ancestry
S58fsX8b 6610Irish
Q66Xb 6620Scots
R170fsX1318370German
L253fsX225540German
R414Xb 41430German
Y551X55120French
G796X79610English
G853fsX20b 87310German
S896fsX31b 92730German
W906Xb 90610English
K974fsX4b 97810English
P1009fsX5b 1,01420German
p.999-1038del (56%)50African
G1028fsX2 (40%)1,030American (2)
W1038X (4%)1,038English (3)
  • aSeries 2.

  • bMutation not previously reported.