Variant Results

or

Results for "PTEN"

Variant Events: 73

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

PTEN

2-0149-003

chr10:
89894172-89894172

G

GCT

intergenic

De novo

-

Yuen2017 G

PTEN

2-1693-003

chr10:
89903924-89903933

AGTTGTTGTT

AGTTGTT

intergenic

De novo

-

Yuen2017 G

PTEN

2-1318-004

chr10:
89624277-89624280

AGAG

A

exonic

De novo

nonframeshift deletion

NM_000314
NM_001304717

c.52_54del
c.571_573del

p.18_18del
p.191_191del

-

Yuen2017 G

PTEN

AU037503

chr10:
89692977-89692977

T

TT

exonic

Maternal

frameshift insertion

NM_000314
NM_001304717

c.461dupT
c.980dupT

p.F154fs
p.F327fs

-

Zhou2019 T

PTEN

SP0125333

chr10:
89692904-89692904

C

T

exonic

De novo

stopgain

NM_000314
NM_001304717

c.C388T
c.C907T

p.R130X
p.R303X

48.0

8.237E-6

Fu2022 E

PTEN

AU060803

chr10:
89692920-89692920

T

TT

exonic

Paternal

frameshift insertion

NM_000314
NM_001304717

c.404dupT
c.923dupT

p.I135fs
p.I308fs

-

Zhou2019 T

PTEN

SP0025612

chr10:
89685268-89685268

A

G

splicing

De novo

splicing

17.98

-

Fu2022 E

PTEN

SSC09614

chr10:
89692790-89692790

G

A

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.G274A
c.G793A

p.D92N
p.D265N

33.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E

PTEN

2-1223-003

chr10:
89717698-89717698

T

G

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304718
NM_001304717

c.T723G
c.T132G
c.T1242G

p.F241L
p.F44L
p.F414L

11.36

-

Yuen2017 G

PTEN

7-0250-003

chr10:
89717698-89717698

T

G

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304718
NM_001304717

c.T723G
c.T132G
c.T1242G

p.F241L
p.F44L
p.F414L

11.36

-

Yuen2017 G

PTEN

Lim2017:6233

chr10:
89711882-89711882

C

A

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.C500A
c.C1019A

p.T167N
p.T340N

28.6

-

Lim2017 E

PTEN

iHART2334

chr10:
89692818-89692818

T

C

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.T302C
c.T821C

p.I101T
p.I274T

23.4

-

Ruzzo2019 G

PTEN

AU3915301

chr10:
89692961-89692961

C

T

exonic

De novo

stopgain

NM_000314
NM_001304717

c.C445T
c.C964T

p.Q149X
p.Q322X

48.0

-

Yuen2017 G

PTEN

SSC11758

chr10:
89692908-89692908

C

T

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.C392T
c.C911T

p.T131I
p.T304I

27.8

-

Antaki2022 GE
Fu2022 E
Lim2017 E

PTEN

SP0124924

chr10:
89693037-89693037

C

A

intronic

De novo

-

Fu2022 E

PTEN

1-0139-003

chr10:
89894202-89894202

C

T

intergenic

De novo

-

Yuen2017 G

PTEN

SP0101112

chr10:
89712008-89712008

G

T

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304718
NM_001304717

c.G626T
c.G35T
c.G1145T

p.G209V
p.G12V
p.G382V

22.2

-

Fu2022 E

PTEN

Hu2022:45

chr10:
89717672-89717672

C

T

exonic

Unknown

stopgain

NM_000314
NM_001304718
NM_001304717

c.C697T
c.C106T
c.C1216T

p.R233X
p.R36X
p.R406X

48.0

-

Hu2022 T

PTEN

AU0146301

chr10:
89919864-89919864

T

C

intergenic

De novo

-

Yuen2017 G

PTEN

1-0579-003

chr10:
89717712-89717712

C

T

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304718
NM_001304717

c.C737T
c.C146T
c.C1256T

p.P246L
p.P49L
p.P419L

19.43

-

Yuen2017 G

PTEN

Schaaf2011:38

chr10:
89712000-89712000

C

G

exonic

Unknown

nonsynonymous SNV

NM_000314
NM_001304718
NM_001304717

c.C618G
c.C27G
c.C1137G

p.F206L
p.F9L
p.F379L

16.87

-

Schaaf2011 T

PTEN

1-0352-005

chr10:
89949366-89949366

T

A

intergenic

De novo

-

Yuen2017 G

PTEN

Schaaf2011:37

chr10:
89690825-89690825

A

G

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.A232G
c.A751G

p.T78A
p.T251A

12.12

-

Schaaf2011 T

PTEN

08C76383

chr10:
89692818-89692818

T

C

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.T302C
c.T821C

p.I101T
p.I274T

23.4

-

Fu2022 E
Satterstrom2020 E

PTEN

151853

chr10:
89692965-89692965

A

G

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.A449G
c.A968G

p.E150G
p.E323G

28.0

-

Fu2022 E
Satterstrom2020 E

PTEN

03C16365

chr10:
89685315-89685319

GTAAG

G

splicing

Inherited

splicing

-

Stessman2017 T

PTEN

1-0539-003

chr10:
89894202-89894202

C

T

intergenic

De novo

-

Yuen2017 G

PTEN

2-1296-003

chr10:
89667957-89667957

G

A

intronic

De novo

-

Yuen2017 G

PTEN

EX17A

chr10:
89692971-89692971

T

A

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.T455A
c.T974A

p.L152Q
p.L325Q

26.0

-

Fu2022 E

PTEN

6233

chr10:
89711882-89711882

C

A

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.C500A
c.C1019A

p.T167N
p.T340N

28.6

-

Fu2022 E

PTEN

161450

chr10:
89690836-89690836

T

G

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.T243G
c.T762G

p.F81L
p.F254L

35.0

-

Fu2022 E

PTEN

3-0209-000

chr10:
89821944-89821944

G

T

intergenic

De novo

-

Yuen2017 G

PTEN

08C72370

chr10:
89692836-89692836

A

T

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.A320T
c.A839T

p.D107V
p.D280V

25.2

-

Fu2022 E

PTEN

2-0182-003

chr10:
89894202-89894202

C

T

intergenic

De novo

-

Yuen2017 G

PTEN

1

chr10:
89717712-89717712

C

T

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304718
NM_001304717

c.C737T
c.C146T
c.C1256T

p.P246L
p.P49L
p.P419L

19.43

-

Du2018 E

PTEN

SP0010524

chr10:
89624249-89624249

T

A

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.T23A
c.T542A

p.I8N
p.I181N

17.75

-

Antaki2022 GE
Fu2022 E

PTEN

111299

chr10:
89685300-89685300

C

A

exonic

stopgain

NM_000314
NM_001304717

c.C195A
c.C714A

p.Y65X
p.Y238X

49.0

-

Woodbury-Smith2022 E

PTEN

SP0010765

chr10:
89692940-89692940

C

T

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.C424T
c.C943T

p.R142W
p.R315W

24.1

8.242E-6

Antaki2022 GE
Fu2022 E

PTEN

1-0638-003

chr10:
89768326-89768326

A

G

intergenic

De novo

-

Yuen2017 G

PTEN

SP0063977

chr10:
89692919-89692919

A

C

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.A403C
c.A922C

p.I135L
p.I308L

29.5

-

Antaki2022 GE
Fu2022 E

PTEN

1-0352-003

chr10:
89949366-89949366

T

A

intergenic

De novo

-

Yuen2016 G

PTEN

137862

chr10:
89690802-89690802

G

A

splicing

Inherited

splicing

24.1

-

Stessman2017 T

PTEN

SSC00881

chr10:
89711882-89711882

C

A

exonic

nonsynonymous SNV

NM_000314
NM_001304717

c.C500A
c.C1019A

p.T167N
p.T340N

28.6

-

Antaki2022 GE

PTEN

AN01570

chr10:
89685300-89685300

C

A

exonic

Unknown

stopgain

NM_000314
NM_001304717

c.C195A
c.C714A

p.Y65X
p.Y238X

49.0

-

D’Gama2015 T

PTEN

SP0101364

chr10:
89692995-89692995

C

T

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.C479T
c.C998T

p.T160I
p.T333I

25.9

-

Antaki2022 GE
Fu2022 E

PTEN

AU066206

chr10:
89990377-89990377

A

G

intergenic

De novo

-

Yuen2017 G

PTEN

AGG0314

chr10:
89711927-89711928

TA

T

exonic

De novo

frameshift deletion

NM_000314
NM_001304717

c.546delA
c.1065delA

p.L182fs
p.L355fs

-

Fu2022 E
Satterstrom2020 E

PTEN

5-0083-003

chr10:
89665823-89665823

C

T

intronic

De novo

-

Yuen2017 G

PTEN

2-0299-005

chr10:
89755194-89755194

G

A

intergenic

De novo

-

Yuen2017 G

PTEN

AU4212303

chr10:
89790199-89790199

C

T

intergenic

De novo

-

Yuen2017 G

PTEN

Lee2020:46

chr10:
89690842-89690842

C

A

exonic

stopgain

NM_000314
NM_001304717

c.C249A
c.C768A

p.C83X
p.C256X

48.0

-

Lee2020 T

PTEN

2-1362-003

chr10:
89710111-89710111

T

C

intronic

De novo

-

Yuen2017 G

PTEN

Schaaf2011:104

chr10:
89690798-89690803

TTTAGT

T

exonic

Unknown

frameshift deletion

NM_000314
NM_001304717

c.210_210del
c.729_729del

p.L70fs
p.L243fs

-

Schaaf2011 T

PTEN

5-0116-003

chr10:
89776888-89776888

T

C

intergenic

De novo

-

Yuen2017 G

PTEN

1-0203-003

chr10:
89916446-89916446

C

T

intergenic

De novo

-

Yuen2017 G

PTEN

1264011

chr10:
89624245-89624245

G

T

exonic

De novo

stopgain

NM_000314
NM_001304717

c.G19T
c.G538T

p.E7X
p.E180X

49.0

-

Fu2022 E
Satterstrom2020 E

PTEN

1-0901-003

chr10:
89911039-89911039

A

G

intergenic

De novo

-

Yuen2017 G

PTEN

2-0002-005

chr10:
89951899-89951899

T

C

intergenic

De novo

-

Yuen2017 G

PTEN

1-0158-012

chr10:
89649287-89649287

A

AAGT

intronic

De novo

-

Yuen2017 G

PTEN

13314.p1

chr10:
89839953-89839953

A

G

intergenic

De novo

-

Werling2018 G

PTEN

1-0219-003

chr10:
89726672-89726672

T

TG

UTR3

De novo

-

Yuen2017 G

PTEN

14611.p1

chr10:
89692920-89692920

T

TA

exonic

De novo

frameshift insertion

NM_000314
NM_001304717

c.405dupA
c.924dupA

p.I135fs
p.I308fs

-

O’Roak2012a T
O’Roak2014 T

PTEN

12517.p1

chr10:
89717615-89717615

C

T

exonic

Maternal

stopgain

NM_000314
NM_001304718
NM_001304717

c.C640T
c.C49T
c.C1159T

p.Q214X
p.Q17X
p.Q387X

49.0

-

O’Roak2012a T

PTEN

13991.p1

chr10:
89692790-89692790

G

A

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.G274A
c.G793A

p.D92N
p.D265N

33.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Wilfert2021 G

PTEN

M21723

chr10:
89717650-89717650

T

G

exonic

Unknown

stopgain

NM_000314
NM_001304718
NM_001304717

c.T675G
c.T84G
c.T1194G

p.Y225X
p.Y28X
p.Y398X

48.0

-

Guo2018 T

PTEN

14433.p1

chr10:
89692908-89692908

C

T

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.C392T
c.C911T

p.T131I
p.T304I

27.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G

PTEN

11390.p1

chr10:
89711882-89711882

C

A

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.C500A
c.C1019A

p.T167N
p.T340N

28.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G

PTEN

SMHC00996s000

chr10:
89692904-89692904

C

T

exonic

De novo

stopgain

NM_000314
NM_001304717

c.C388T
c.C907T

p.R130X
p.R303X

48.0

8.237E-6

Yuan2023 E

PTEN

1-0274-004

chr10:
89630440-89630440

G

A

intronic

De novo

-

Yuen2017 G

PTEN

1-0414-005

chr10:
89894205-89894205

G

T

intergenic

De novo

-

Yuen2017 G

PTEN

211-5447-3

chr10:
89692818-89692818

T

C

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.T302C
c.T821C

p.I101T
p.I274T

23.4

-

O’Roak2014 T

PTEN

AU065A

chr10:
89711874-89711874

G

A

splicing

De novo

splicing

21.2

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

PTEN

217-14246-3700

chr10:
89692836-89692836

A

T

exonic

De novo

nonsynonymous SNV

NM_000314
NM_001304717

c.A320T
c.A839T

p.D107V
p.D280V

25.2

-

O’Roak2014 T

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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