Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients

Table 3 Characterization and pathogenicity of STK11 mutations

Sample	Mutation_type	Description	HGVSc	dbSNP RS	COSM_ID	Classification
1	Stop gained	p.Y601	c.180C>G	/	COSM20874	P
2	Splice acceptor variant	c.921-1G>A	c.921-1G>A	/	COSM49008	LP
3	Splice acceptor variant	c.921-1G>C	c.921-1G>C	rs398123406	/	P
4	Stop gained	p.K841	c.250A>T	rs137853076	COSM3388586; COSM3388585	P
5	Splice acceptor variant	c.921-1G>C	c.921-1G>C	rs398123406	/	P
6	Stop gained	p.Q1231	c.367C>T	/	COSM5224269; COSM380443	P
7	Missense variant	p.W239C	c.717G>T	/	COSM333593; COSM4278104	LP
8	Missense variant	p.R297S	c.891G>T	rs730881984	/	P
9	Stop gained	p.Q1001	c.298C>T	/	/	LP
10	Stop gained	p.K841	c.250A>T	rs137853076	COSM3388586; COSM3388585	P
11	Missense variant	p.R409W	c.1225C>T	rs368466538	COSM25854	VUS
12	Stop gained	p.Q1121	c.334C>T	/	COSM3528680; COSM3528681	LP
13	Missense variant	p.D176N	c.526G>A	rs730881979	COSM4827691; COSM4827690	P
14	Stop gained	p.K841	c.250A>T	rs137853076	COSM3388586; COSM3388585	P
15	Missense variant	p.R304W	c.910C>T	rs786201090	COSM29468	LP
16	Stop gained	p.E1201	c.358G>T	rs775595174	COSM20875	P
17	Stop gained	p.K841	c.250A>T	rs137853076	COSM3388586; COSM3388585	P
18	Conservative inframe deletion	p.Y60fs	c.179dup	rs876661012	COSM5219400; COSM1480565	P
19	Stop gained	p.R861	c.256C>T	/	COSM4767773; COSM4767772	P
20	Stop gained	p.Q1701	c.508C>T	rs121913323	COSM20943	LP
21	Stop gained	p.Q1701	c.508C>T	rs121913323	COSM20943	LP
22	Missense variant	p.S240W	c.719C>G	rs730881976	/	VUS
23	Splice acceptor variant	c.921-2A>G	c.921-2A>G	/	/	LP
24	Splice acceptor variant	c.921-1G>C	c.921-1G>C	rs398123406	/	P
25	Conservative inframe deletion	p.P281fs	c.842del	rs121913321	COSM4336438; COSM20871	P
26	Splice acceptor variant	p.L245F	c.733C>T	/	COSM1523960; COSM4278108	VUS
27	Stop gained	p.Q1371	c.409C>T	rs730881970	COSM48901	P
28	Stop gained	p.Q1371	c.409C>T	rs730881970	COSM48901	P
29	Stop gained	p.Q1231	c.367C>T	/	COSM5224269; COSM380443	P
30	Missense variant	p.D194N	c.580G>A	rs121913315	COSM25847	VUS
31	3_prime_UTR_variant	c.201G>A1	c.201G>A1	rs528679025	/	P
32	Splice acceptor variant	c.598-2A>G	c.598-2A>G	/	/	LP
33	Stop gained	p.Q1591	c.475C>T	/	COSM5002233; COSM27316	LP
34	Gene fusion	STK11-MIDN	/	/	/	LP
35	Conservative inframe deletion	p.D53fs	c.157del	/	COSM27282; COSM6048514	VUS
36	Missense variant	p.D194N	c.580G>A	rs121913315	COSM25847	LP
37	Missense variant	p.P179Q	c.536C>A	/	COSM4822602; COSM4822601	LP
38	Stop gained	p.W3081	c.924G>A	/	/	LP
39	Stop gained	p.E651	c.193G>T	/	COSM20876	P
40	Splice acceptor variant	c.920+1G>C	c.920+1G>C	/	COSM4412472; COSM4412473	LP
41	Conservative inframe deletion	p.C134fs	c.402_403del	rs587782424	COSM5508976; COSM5508975	P
42	Nonsense variant	p.Q220X	c.658C>T	/	COSM13480; COSM4278102	P
43	Nonsense variant	p.Y60X	c.180del	/	COSM20874; COSM27322; COSM48900; COSM5490514	P
44	Missense variant	p.D194N	c.580G>A	rs121913315	/	LP
45	Missense variant	p.R297K	c.890G>A	/	COSM401786; COSM6149636	LP
46	Splice acceptor variant	/	c.863-2A>G	/	/	LP
47	Nonsense variant	p.Q137X	c.409C>T	rs730881970	/	P
48	Splice acceptor variant	c.735-6_735-2del	c.735-6_735-2del	rs759090799	/	VUS
	Conservative inframe deletion2	p.L183fs	c.548del	/	/	LP
49	3 prime UTR variant	c.201G>A1	c.201G>A1	rs528679025	/	LP
	Conservative inframe deletion2	p.C158fs	c.472del	/	/	VUS
50	Stop gained2	p.K811	c.241A>T	/	/	LP
51	Missense variant2	p.R304P	c.911G>C	/	/	P
52	Missense variant2	p.R297K	c.890G>A	/	/	LP
53	Conservative inframe deletion2	p.E145fs	c.426_448del	/	/	LP
54	Stop gained2	p.Y2721	c.816C>A	/	/	LP
55	Stop gained2	p.Q1001	c.298C>T	/	/	LP
56	Conservative inframe deletion2	p.K64fs	c.190_191del	/	/	LP
57	Splice acceptor variant2	c.921-2A>G	c.921-2A>G	/	/	LP
58	Stop gained2	p.Y2921	c.876C>G	/	/	LP
59	Conservative inframe deletion2	p.T212fs	c.634del	/	/	LP
60	Stop gained2	p.K971	c.289A>T	/	/	P
61	Missense variant2	p.H154P	c.461A>C	/	/	VUS
62	Missense variant2	p.A153P	c.457G>C	/	/	VUS
63	Missense variant2	p.L140P	c.419T>C	/	/	VUS
64	Conservative inframe deletion2	p.F264fs	c.792del	/	/	P
65	Stop gained2	p.W3081	c.924G>A	/	/	P
66	Splice acceptor variant2	c.598-2A>G	c.598-2A>G	/	/	LP
67	Conservative inframe deletion2	p.F157fs	c.471_472del	/	/	LP
68	Conservative inframe deletion2	p.S193fs	c.577_578del	/	/	LP
69	Splice acceptor variant2	c.734+1G>A	c.734+1G>A	/	/	LP
70	Missense variant2	p.L290H	c.869T>A	/	COSM20944; COSM25847; COSM4278092	VUS
71	Nonsense variant2	p.Y60X	c.179dup	/	/	P
72	Conservative inframe deletion2	p.L282Afs	c.842dup	/	/	P
73	Conservative inframe deletion2	p.V77Rfs	c.228dup	/	COSM48901	LP

¹Nonsense mutation leading to protein inactivationy.

²The table shows the 26 new STK11 mutation sites.

P: Pathogenic; LP: Likely pathogenic; VUS: Uncertain significance; SNP: Single nucleotide polymorphism.