Table 1 PIK3R1 Variant Characteristics.

From: Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

PIK3R1 coding variant (NM_181523.3)

Predicted protein consequence

Protein ___domain

Tissue type

Tissue source

VAF; Total NGS read depth at variant position

IND

c.1126G>A

p.(Gly376Arg)

SH2

FT

PB; reticulated port wine stain of left leg

2.9; 2,772

13

c.1355_1365delinsTTCAAGAAAAAAGTTTCTTGAAA

p.(Tyr452_Gln455 delinsPheGlnGluLysSerPheLeuLys)

PI3K_P85_iSH2

FFPE

EB; VM with features of AVM involving the epidermis/regional fibroadipose tissue on dorsum of left foot

6.4; 1,086

17

c.1392_1403delTAGATTATATGA

p.(Asp464_Tyr467del)

PI3K_P85_iSH2

FT

Affected skin

1.5; 1,290

14

c.1690A>G

p.(Asn564Asp)

PI3K_P85_iSH2

CT

Affected tissue

39.8a; 1,224

1

c.1690A>G

p.(Asn564Asp)

PI3K_P85_iSH2

FT

Affected tissue

24; 321

2

c.1690A>G

p.(Asn564Asp)

PI3K_P85_iSH2

FFPE

EB; soft tissue mass consistent with a benign vascular malformation of the left forearm

3.4; 1,980

3

c.1690A>G

p.(Asn564Asp)

PI3K_P85_iSH2

FT

PB; affected skin

2.8; 2,779

10

c.1690A>G

p.(Asn564Asp)

PI3K_P85_iSH2

FT

PB; affected skin

2.2; 4,159

12

c.1690A>G

p.(Asn564Asp)

PI3K_P85_iSH2

FT

PB; affected skin

1.8; 6,616

16

c.1699A>G

p.(Lys567Glu)

PI3K_P85_iSH2

FT

PB; affected skin

4.1; 2,675

4

c.1699A>G

p.(Lys567Glu)

PI3K_P85_iSH2

FT

PB; affected skin

2.3; 2,737

9

c.1699A>G

p.(Lys567Glu)

PI3K_P85_iSH2

FT

PB; affected skin

1.1; 1,425

11

c.1735_1740delCAATAC

p.(Gln579_Tyr580del)

PI3K_P85_iSH2

FT

PB; affected skin

13.3; 1,832

5

c.1746–6_1751delTTTCAGGTGGTT

p.(Met582_Asp605delinsIle)

PI3K_P85_iSH2

FT

PB; affected skin

3.1; 4,205

6

c.1746–5_1748delTTCAGGTG

p.(Met582_Asp605delinsIle)

PI3K_P85_iSH2

FFPE

EB; affected skin

5.9; 1,174

7

c.1748_1750delGGT

p.(Met582_Asp605delinsIle)

PI3K_P85_iSH2

FT

PB; affected skin

1.4; 2,886

8

c.1748_1750delGGT

p.(Met582_Asp605delinsIle)

PI3K_P85_iSH2

FT

PB; port wine stain of right forearm

2.2; 3,317

15

  1. AVM arteriovenous malformation, CT cultured tissue, EB excisional biopsy, FFPE formalin-fixed paraffin-embedded tissue, FT fresh frozen tissue, IND individual, PB punch biopsy, VAF variant allele frequency/fraction, VM vascular malformation.
  2. aFor individual 1, five samples of affected tissue were assayed by next-generation sequencing (NGS) or restriction fragment length polymorphism (RFLP) studies. Tissues including skin (NGS, 39.8% VAF; RFLP, 55.6% VAF), bone (RFLP, 26.49% VAF), cartilage (RFLP, 28.1% VAF), fat (RFLP, 0.96% VAF) and a mixed sample (RFLP, 1.25% VAF) were all cultured and DNA isolated from cultured cells was analyzed. Uncultured biopsy samples were not genotyped. Blood and unaffected fibroblasts were not observed to harbor the variant.
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