Table 4.

Characterization and pathogenicity of mutations in wild-type Peutz-Jeghers syndrome patients

Sample	Gene	Description	HGVSc	Mutation_type	dbSNP RS	COSM_ID	Classification
1	BLM	p.I947V	c.2839A>G	Missense mutation	rs189925962	NA	VUS
	BMPR1A	p.A13T	c.37G>A	Missense mutation	rs200115604	NA	VUS
	POLD1	p.K486del	c.1456_1458del	Frameshift deletion	NA	NA	VUS
2	CHEK2	p.S252N	c.755G>A	Missense mutation	rs587781379	COSM6004987; COSM6004988	VUS
	MUTYH	c.36+11C>T	c.36+11C>T	Intron mutations	rs2275602	COSN17145138	VUS
	SDHC	p.L106V	c.316C>G	Missense mutation	NA	NA	VUS
3	CHEK2	p.R181H	c.542G>A	Missense mutation	rs121908701	NA	VUS
	MUTYH	c.37_39del1	c.37_39del1	Mutation in the 3' untranslated region	rs373507005	NA	VUS
	MUTYH	c.36+11C>T	c.36+11C>T	Intron mutations	rs2275602	COSN17145138	VUS
	MUTYH	p.G25D	c.74G>A	Missense mutation	rs75321043	NA	VUS
	MUTYH	p.P18L	c.53C>T	Missense mutation	rs79777494	NA	VUS
	POLE	c.3378+10A>G	c.3378+10A>G	Intron mutations	rs193075152	NA	VUS
4	BLM	p.M348I	c.1044G>A	Missense mutation	rs184657475	COSM1580597	VUS
5	BRCA1	p.P1192L	c.3575C>T	Missense mutation	NA	COSM4991001; COSM4991000	VUS
	BRCA2	p.F3328C	c.9983T>G	Missense mutation	rs770826575	NA	VUS
	CHEK2	p.H371Y	c.1111C>T	Missense mutation	rs531398630	COSM4002125	VUS
6	APC	p.I1524R	c.4571T>G	Missense mutation	rs200803739	NA	VUS
7	CDH1	p.S145Y	c.434C>A	Missense mutation	NA	NA	VUS
	POLE	c.3378+10A>G	c.3378+10A>G	Intron mutations	rs193075152	NA	VUS
8	ATM	c.3154-5C>T	c.3154-5C>T	Intron mutations	rs55719759	NA	VUS
	CHEK2	p.S252N	c.755G>A	Missense mutation	rs587781379	COSM6004987; COSM6004988	VUS
	ERBB2	p.V1253M	c.3757G>A	Missense mutation	rs36085723	NA	VUS
9	ATM	p.I1332M	c.3996T>G	Missense mutation	NA	NA	VUS
	POLD1	p.A532T	c.1594G>A	Missense mutation	rs765276497	NA	VUS
10	MUTYH	c.934-2A>G	c.934-2A>G	Splice receptor mutation	rs77542170	NA	VUS
	SMAD4	p.A309V	c.926C>T	Missense mutation	NA	NA	VUS
11	APC	p.A41T	c.121G>A	Missense mutation	NA	NA	VUS
	POLD1	p.R218H	c.653G>A	Missense mutation	rs150010804	NA	VUS
12	SBDS	p.K33R	c.98A>G	Missense mutation	rs373730800	COSM4826086	VUS
13	ATM	p.V519I	c.1555G>A	Missense mutation	NA	NA	VUS
	BRCA2	p.H523R	c.1568A>G	Missense mutation	rs80358443	NA	VUS

¹Nonsense mutation leading to protein inactivation.

P: Pathogenic; LP: Likely pathogenic; VUS: Uncertain significance; NA: Not available.