Variant Results

or

or

Results for "PIK3C2G"

Variant Events: 78

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

PIK3C2G

2-1215-003

chr12:
18431537-18431537

T

C

intronic

De novo

-

-

Yuen2017 G

PIK3C2G

2-0063-005

chr12:
18586811-18586811

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

AU3984301

chr12:
18439373-18439373

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

SP0046116

chr12:
18515889-18515898

AAAGCAAGGG

A

intronic

De novo

-

-

Fu2022 E

PIK3C2G

2-0305-003

chr12:
18672992-18672992

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

SP0123026

chr12:
18499766-18499766

C

T

exonic

De novo

nonsynonymous SNV

NM_001288772
NM_001288774
NM_004570

c.C1621T
c.C955T
c.C1621T

p.H541Y
p.H319Y
p.H541Y

12.83

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PIK3C2G

1-0126-003

chr12:
18569091-18569091

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

2-1359-003

chr12:
18672992-18672992

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

2-1729-003

chr12:
18818517-18818517

G

A

intergenic

De novo

-

-

Yuen2017 G

PIK3C2G

2-0299-003

chr12:
18672992-18672992

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

AU3779302

chr12:
18654958-18654958

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

74-0352

chr12:
18510221-18510221

C

T

intronic

De novo

-

-

Michaelson2012 G

PIK3C2G

AU045514

chr12:
18714269-18714269

C

T

intronic

De novo

-

-

Yuen2017 G

PIK3C2G

mAGRE5439

chr12:
18576975-18576975

T

G

splicing

Maternal

splicing

15.3

-

Cirnigliaro2023 G

PIK3C2G

mAGRE1901

chr12:
18573969-18573969

G

A

splicing

Paternal

splicing

18.15

-

Cirnigliaro2023 G

PIK3C2G

mAGRE2999

chr12:
18496295-18496295

G

C

splicing

Paternal

splicing

16.55

Cirnigliaro2023 G

PIK3C2G

mAGRE2998

chr12:
18496295-18496295

G

C

splicing

Paternal

splicing

16.55

Cirnigliaro2023 G

PIK3C2G

mAGRE2997

chr12:
18496295-18496295

G

C

splicing

Paternal

splicing

16.55

Cirnigliaro2023 G

PIK3C2G

mAGRE1989

chr12:
18466993-18466993

C

T

exonic

Paternal

stopgain

NM_001288772
NM_001288774
NM_004570

c.C1132T
c.C466T
c.C1132T

p.R378X
p.R156X
p.R378X

40.0

Cirnigliaro2023 G

PIK3C2G

mAGRE1988

chr12:
18466993-18466993

C

T

exonic

Paternal

stopgain

NM_001288772
NM_001288774
NM_004570

c.C1132T
c.C466T
c.C1132T

p.R378X
p.R156X
p.R378X

40.0

Cirnigliaro2023 G

PIK3C2G

mAGRE5723

chr12:
18435393-18435393

G

A

exonic

Maternal

stopgain

NM_001288772
NM_004570

c.G378A
c.G378A

p.W126X
p.W126X

21.2

-

Cirnigliaro2023 G

PIK3C2G

AU4154303

chr12:
18803656-18803659

ATAT

ATATCTAT

intergenic

De novo

-

-

Yuen2017 G

PIK3C2G

REACH000182

chr12:
18418979-18418979

T

A

intronic

De novo

-

-

Trost2022 G

PIK3C2G

mAGRE4004

chr12:
18641504-18641505

AT

A

exonic

Paternal

frameshift deletion

NM_004570
NM_001288772
NM_001288774

c.2504delT
c.2627delT
c.1961delT

p.I835fs
p.I876fs
p.I654fs

-

Cirnigliaro2023 G

PIK3C2G

11341.p1

chr12:
18436361-18436361

T

C

intronic

De novo

-

-

Turner2016 G

PIK3C2G

mAGRE5656

chr12:
18641388-18641389

TA

T

exonic

Maternal

frameshift deletion

NM_004570
NM_001288772
NM_001288774

c.2388delA
c.2511delA
c.1845delA

p.L796fs
p.L837fs
p.L615fs

-

-

Cirnigliaro2023 G

PIK3C2G

mAGRE5655

chr12:
18641388-18641389

TA

T

exonic

Maternal

frameshift deletion

NM_004570
NM_001288772
NM_001288774

c.2388delA
c.2511delA
c.1845delA

p.L796fs
p.L837fs
p.L615fs

-

-

Cirnigliaro2023 G

PIK3C2G

iHART2998

chr12:
18496295-18496295

G

C

splicing

Paternal

splicing

16.55

Ruzzo2019 G

PIK3C2G

7-0203-003

chr12:
18491102-18491102

T

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

iHART2999

chr12:
18496295-18496295

G

C

splicing

Paternal

splicing

16.55

Ruzzo2019 G

PIK3C2G

4-0007-003

chr12:
18495155-18495155

T

C

intronic

De novo

-

-

Trost2022 G

PIK3C2G

iHART1901

chr12:
18573969-18573969

G

A

splicing

Paternal

splicing

18.15

-

Ruzzo2019 G

PIK3C2G

MSSNG00127-003

chr12:
18476645-18476645

C

T

intronic

De novo

-

-

Trost2022 G

PIK3C2G

iHART2997

chr12:
18496295-18496295

G

C

splicing

Paternal

splicing

16.55

Ruzzo2019 G

PIK3C2G

5-0134-003

chr12:
18476977-18476977

A

AC

intronic

De novo

-

-

Trost2022 G

PIK3C2G

AU2310301

chr12:
18459643-18459643

T

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

2-0103-004

chr12:
18470652-18470652

G

A

intronic

De novo

-

-

Trost2022 G

PIK3C2G

1-0300-003

chr12:
18638666-18638666

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

iHART1989

chr12:
18466993-18466993

C

T

exonic

Paternal

stopgain

NM_001288772
NM_001288774
NM_004570

c.C1132T
c.C466T
c.C1132T

p.R378X
p.R156X
p.R378X

40.0

Ruzzo2019 G

PIK3C2G

3-0093-000

chr12:
18423161-18423161

A

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

iHART1988

chr12:
18466993-18466993

C

T

exonic

Paternal

stopgain

NM_001288772
NM_001288774
NM_004570

c.C1132T
c.C466T
c.C1132T

p.R378X
p.R156X
p.R378X

40.0

Ruzzo2019 G

PIK3C2G

1-1155-003

chr12:
18456417-18456417

G

A

intronic

De novo

-

-

Trost2022 G

PIK3C2G

7-0143-004

chr12:
18579739-18579739

A

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

REACH000643

chr12:
18583836-18583836

T

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

1-0233-004

chr12:
18558612-18558612

G

C

intronic

De novo

-

-

Yuen2017 G

PIK3C2G

AU046506

chr12:
18560514-18560514

G

T

intronic

De novo

-

-

Trost2022 G

PIK3C2G

1-0630-003

chr12:
18571949-18571949

C

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

5-5185-003

chr12:
18545519-18545519

C

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

1-1040-003

chr12:
18553256-18553256

A

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

AM03ZF-03

chr12:
18522979-18522979

C

T

intronic

De novo

-

-

Trost2022 G

PIK3C2G

4-0046-004

chr12:
18534904-18534904

G

GATCACACAT

intronic

De novo

-

-

Trost2022 G

PIK3C2G

2-1391-004

chr12:
18656122-18656124

AGT

TTTTCTGGATTACCC

intronic

De novo

-

-

Trost2022 G

PIK3C2G

2-1391-004

chr12:
18656127-18656127

T

AATA

intronic

De novo

-

-

Trost2022 G

PIK3C2G

AU2310301

chr12:
18647405-18647405

C

A

intronic

De novo

-

-

Trost2022 G

PIK3C2G

MSSNG00351-003

chr12:
18651332-18651332

G

C

intronic

De novo

-

-

Trost2022 G

PIK3C2G

1-0487-003

chr12:
18802367-18802367

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

PIK3C2G

B222603

chr12:
18473920-18473920

T

C

exonic

De novo

nonsynonymous SNV

NM_001288772
NM_001288774
NM_004570

c.T1162C
c.T496C
c.T1162C

p.Y388H
p.Y166H
p.Y388H

5.634

-

Fu2022 E

PIK3C2G

AM03ZF-03

chr12:
18616841-18616841

G

A

intronic

De novo

-

-

Trost2022 G

PIK3C2G

7-0411-003

chr12:
18625521-18625521

T

C

intronic

De novo

-

-

Trost2022 G

PIK3C2G

2-0242-004

chr12:
18707240-18707241

CA

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

REACH000001

chr12:
18603734-18603734

G

A

intronic

De novo

-

-

Trost2022 G

PIK3C2G

MSSNG00204-003

chr12:
18614196-18614196

C

A

intronic

De novo

-

-

Trost2022 G

PIK3C2G

1-0618-003

chr12:
18755800-18755800

T

C

intronic

De novo

-

-

Trost2022 G

PIK3C2G

2-1341-004

chr12:
18545614-18545614

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

1-0264-005

chr12:
18769519-18769519

C

A

intronic

De novo

-

-

Trost2022 G

PIK3C2G

MSSNG00108-004

chr12:
18740841-18740841

C

CAT

intronic

De novo

-

-

Trost2022 G

PIK3C2G

REACH000757

chr12:
18744100-18744100

A

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

AU055603

chr12:
18682573-18682573

T

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

MSSNG00022-003

chr12:
18718695-18718695

A

G

intronic

De novo

-

-

Trost2022 G

PIK3C2G

5-0026-003

chr12:
18656127-18656127

T

AATA

intronic

De novo

-

-

Trost2022 G

PIK3C2G

SSC03561

chr12:
18656192-18656192

G

T

intronic

De novo

-

-

Trost2022 G

PIK3C2G

AU1987301

chr12:
18710622-18710622

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

MSSNG00101-003

chr12:
18801420-18801420

C

G

downstream

De novo

-

-

Trost2022 G

PIK3C2G

1-0756-003

chr12:
18635921-18635921

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

AU2221301

chr12:
18801653-18801653

T

C

downstream

De novo

-

-

Trost2022 G

PIK3C2G

7-0175-003

chr12:
18558215-18558215

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

1-0826-004

chr12:
18681159-18681159

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PIK3C2G

12096.p1

chr12:
18656192-18656192

G

T

intronic

De novo

-

-

Satterstrom2020 E

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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