Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population

Table 2 Summary of the frequent PIK3CA variants found in PROS and vascular malformations

Amino acid variants	Ranks in COSMIC¹	Counts¹	Relative frequency²	Variant class³
H1047R^a	1	5,368	36.73	Pathogenic
E545K^a	2	4,111	28.13	Pathogenic
E542K^a	3	2,515	17.21	Pathogenic
H1047L^a	4	739	5.06	Pathogenic
Q546K^b	8	301	2.06	Conflicting interpretations of pathogenicity
C420R^b	9	258	1.77	Pathogenic
M1043I	11	190	1.30	Pathogenic/Likely pathogenic
E726K	12	168	1.15	Pathogenic
Q546R^b	13	150	1.03	Pathogenic
H1047Y	14	143	0.98	Pathogenic
G118D	15	124	0.85	Pathogenic
E81K	17	113	0.77	Pathogenic
E453K	19	98	0.67	Pathogenic
Y1021C	25	77	0.53	Pathogenic
T1025A	31	60	0.41	Pathogenic/Likely pathogenic
E545D	34	58	0.40	Pathogenic/Likely pathogenic
E110del	42	46	0.31	Likely pathogenic
E365K	54	34	0.23	Pathogenic
P104L	63	26	0.18	Pathogenic/Likely pathogenic
A1035V	113	11	0.08	Pathogenic
G914R	127	9	0.06	Pathogenic
R115P	159	6	0.04	Likely pathogenic
C378Y	159	6	0.04	Pathogenic
E453del	177	5	0.03	Pathogenic
Total PIK3CA vaiants		14,616	100

The PIK3CA variants found in PIK3CA-related overgrowth spectrum (PROS) [3, 6,7,8, 20, 24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48] and vascular malformations [6, 8, 42, 49,50,51,52,53,54,55]. ^aHotspot variants. ^bNon-hotspot variants detected in our cohort. ¹Ranks and counts in COSMIC (Catalogue of Somatic Mutations in Cancer) v97. ²Relative frequency in this table. ³Variant class in ClinVar.

ISSN: 1750-1172