Variant Results

or

or

Results for "PIK3CA"

Variant Events: 23

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

PIK3CA

Mahjani2021:26

chr3:
178916684-178916684

G

A

exonic

nonsynonymous SNV

NM_006218

c.G71A

p.C24Y

18.65

-

Mahjani2021 E

PIK3CA

13171.p1

chr3:
178867129-178867129

A

T

intronic

De novo

-

-

Turner2016 G

PIK3CA

AU057405

chr3:
178930340-178930340

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3CA

Wang2023:576

chr3:
178951994-178951994

G

C

exonic

De novo

nonsynonymous SNV

NM_006218

c.G3049C

p.D1017H

19.28

-

Wang2023 E

PIK3CA

iHART2956

chr3:
178928068-178928068

C

T

exonic

De novo

nonsynonymous SNV

NM_006218

c.C1346T

p.P449L

28.6

-

Ruzzo2019 G

PIK3CA

3-0460-000

chr3:
178897039-178897039

C

T

intronic

De novo

-

-

Trost2022 G

PIK3CA

AU3680301

chr3:
178910593-178910593

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3CA

14602.p1

chr3:
178942653-178942653

A

G

intronic

De novo

-

-

Satterstrom2020 E

PIK3CA

09C82723

chr3:
178928068-178928068

C

T

exonic

Unknown

nonsynonymous SNV

NM_006218

c.C1346T

p.P449L

28.6

-

Stessman2017 T

PIK3CA

5-0054-003

chr3:
178942502-178942502

G

A

exonic

De novo

nonsynonymous SNV

NM_006218

c.G2309A

p.R770Q

32.0

Trost2022 G
Yuen2017 G
Zhou2022 GE

PIK3CA

JASD_Fam0013

chr3:
178947865-178947865

G

A

exonic

De novo

nonsynonymous SNV

NM_006218

c.G2740A

p.G914R

33.0

-

Takata2018 E

PIK3CA

Mahjani2021:3

chr3:
178947841-178947841

G

A

exonic

nonsynonymous SNV

NM_006218

c.G2716A

p.V906I

35.0

-

Mahjani2021 E

PIK3CA

M16223

chr3:
178937494-178937494

C

T

exonic

Maternal

nonsynonymous SNV

NM_006218

c.C1882T

p.L628F

32.0

-

Stessman2017 T

PIK3CA

2-1066-003

chr3:
178949052-178949052

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3CA

11804.p1

chr3:
178916936-178916936

G

A

exonic

nonsynonymous SNV

NM_006218

c.G323A

p.R108H

25.8

-

Zhou2022 GE

PIK3CA

JASD_Fam0003

chr3:
178952088-178952088

A

G

exonic

De novo

nonsynonymous SNV

NM_006218

c.A3143G

p.H1048R

2.269

-

Takata2018 E

PIK3CA

7-0379-003

chr3:
178916614-178916614

A

G

exonic

nonsynonymous SNV

NM_006218

c.A1G

p.M1V

19.42

-

Zhou2022 GE

PIK3CA

Miyake2023:15285

chr3:
178947865-178947865

G

A

exonic

De novo

nonsynonymous SNV

NM_006218

c.G2740A

p.G914R

33.0

-

Miyake2023 E

PIK3CA

REACH000609

chr3:
178941538-178941538

T

C

intronic

De novo

-

-

Trost2022 G

PIK3CA

37427

chr3:
178942653-178942653

A

G

intronic

De novo

-

-

Trost2022 G

PIK3CA

SP0009765

chr3:
178937780-178937780

T

C

exonic

De novo

nonsynonymous SNV

NM_006218

c.T1955C

p.F652S

24.8

-

Fu2022 E
Zhou2022 GE

PIK3CA

mAGRE2956

chr3:
178928068-178928068

C

T

exonic

De novo

nonsynonymous SNV

NM_006218

c.C1346T

p.P449L

28.6

-

Cirnigliaro2023 G

PIK3CA

SSC02890

chr3:
178916936-178916936

G

A

exonic

nonsynonymous SNV

NM_006218

c.G323A

p.R108H

25.8

-

Antaki2022 GE

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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