Table 1

List of PALB2 variants identified

A.Protein-truncating variants (PTVs)
NoType of mutationcDNA changeAA changeDomainCasesControlsTotalPreviously reported
1Nonsc.7G>Tp.E3X505Yes
2SSc.48+2T>G011Yes
3Nonsc.73A>Tp.K25XCC101Yes
4SSc.109–1G>A101No
5SSc.109-2A>G- 101Yes
6SSc.211+1G>A437Yes
7FS delinsc.336_337delinsAp.P113fs303No
8FS delc.426_428delinsCCp.K142fs101No
9Nonsc.751C>Tp.Q251X011Yes
10Fs delc.839delp.N280fs101Yes
11FS insc.886dupp.M296fs011Yes
12Fs delc.1037_1041delp.K346fs404Yes
13Nonsc.1042C>Tp.Q348X101Yes
14Fs delc.1050_1053delp.T351fs202Yes
15Fs delc.1056_1057delp.K353fs101Yes
16FS delc.1059delp.K353fs303Yes
17FS delc.1133delp.P378fs101No
18FS insc.1158dupp.S387fs101No
19Nonsc.1543A>Tp.K515X101No
20FS delc.1592delp.L531X011Yes
21FS delc.1783delp.D595fsMBD101Yes
22Fs delc.1976_1977delp.L659fs101No
23Nonsc.2012T>Gp.L671X101Yes
24Fs delc.2167_2168delp.M723fs303Yes
25Nonsc.2257C>Tp.R753X101Yes
26Nonsc.2336C>Gp.S779X101Yes
27FS delc.2607delp.V870XWD40314Yes
28FS insc.2760dupp.Q921fsWD40101Yes
29Nonsc.2968G>Tp.E990XWD408210Yes
30SSc.3114–1G>A112Yes
31FS delc.3143delp.K1048fsWD40101Yes
32Nonsc.3166C>Tp.Q1056XWD40101Yes
33Nonsc.3256C>Tp.R1086XWD40101Yes
34FS delc.3543delp.F1181fsWD40202No
Total571168
B.Rare missense variants*
NoAGVGD scorecDNA changeAA changeDomainCasesCtrlsTotalPreviously reported
1C25c.25C>Gp.L9VCC101No
2C65c.109C>Tp.R37CCC123Yes
3C25c.110G>Ap.R37HCC101Yes
4C15c.116A>Tp.Q39LCC101Yes
5C65c.1201G>Cp.G401RChAM134No
6C25c.1213C>Gp.P405AChAM5510Yes
7C65c.1226A>Gp.Y409CChAM112Yes
8C15c.1255T>Cp.C419RChAM213No
9C65c.1843C>Tp.P615SMBD011Yes
10C15c.2687C>Tp.S896FWD40404No
11C15c.2978C>Tp.T993MWD40415Yes
12C15c.3035C>Tp.T1012IWD4091322Yes
13C35c.3080T>Gp.L1027RWD40101No
14C25c.3107T>Cp.V1036AWD40202Yes
15C65c.3128G>Tp.G1043VWD40101No
16C15c.3132A>Tp.Q1044HWD40011Yes
17C15c.3506C>Gp.S1169CWD40011Yes
18C15c.3549_3552delinsTTTGp.H1184LWD40101No
Total352964
  • Reference sequence: NM_024675.3.

  • *, variants with AGVGD scores of C15 and above; CC, coiled-coil; PALB2, partner and localiser of BRCA2.