Variant Results

or

Results for "PRUNE2"

Variant Events: 29

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

PRUNE2

AC02-1240-01

chr9:
79325023-79325023

G

A

exonic

De novo

nonsynonymous SNV

NM_001308047
NM_001308048
NM_015225

c.C2167T
c.C2167T
c.C2167T

p.P723S
p.P723S
p.P723S

0.018

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

PRUNE2

2-1120-003

chr9:
79345539-79345539

C

T

intronic

De novo

-

Yuen2017 G

PRUNE2

F2-003

chr9:
79324017-79324017

T

C

exonic

Paternal

nonsynonymous SNV

NM_001308047
NM_001308048
NM_015225

c.A3173G
c.A3173G
c.A3173G

p.E1058G
p.E1058G
p.E1058G

17.52

-

Vaags2012 E

PRUNE2

1-0261-003

chr9:
79568141-79568141

T

C

intergenic

De novo

-

Yuen2017 G

PRUNE2

PN400313

chr9:
79259691-79259691

C

A

exonic

Unknown

nonsynonymous SNV

NM_001308050
NM_001308051
NM_001308049
NM_001308047
NM_001308048
NM_015225

c.G484T
c.G487T
c.G439T
c.G8692T
c.G8695T
c.G8692T

p.V162F
p.V163F
p.V147F
p.V2898F
p.V2899F
p.V2898F

24.1

3.0E-4

Leblond2019 E

PRUNE2

2-0070-003

chr9:
79610557-79610557

T

C

intergenic

De novo

-

Yuen2017 G

PRUNE2

1-0513-003

chr9:
79615605-79615605

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PRUNE2

1-0019-004

chr9:
79585281-79585281

C

T

intergenic

De novo

-

Yuen2017 G

PRUNE2

1-0065-005

chr9:
79570775-79570775

C

T

intergenic

De novo

-

Yuen2017 G

PRUNE2

2-1407-003

chr9:
79315431-79315431

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PRUNE2

iHART1921

chr9:
79465539-79465539

G

GT

exonic

Paternal

frameshift insertion

NM_001308047
NM_001308048
NM_015225

c.183dupA
c.183dupA
c.183dupA

p.P62fs
p.P62fs
p.P62fs

-

8.245E-6

Ruzzo2019 G

PRUNE2

iHART1378

chr9:
79328485-79328485

G

T

exonic

Paternal

stopgain

NM_001308047
NM_001308048
NM_015225

c.C909A
c.C909A
c.C909A

p.C303X
p.C303X
p.C303X

38.0

-

Ruzzo2019 G

PRUNE2

iHART1731

chr9:
79322101-79322103

ACT

A

exonic

Paternal

frameshift deletion

NM_001308047
NM_001308048
NM_015225

c.5087_5088del
c.5087_5088del
c.5087_5088del

p.E1696fs
p.E1696fs
p.E1696fs

-

Ruzzo2019 G

PRUNE2

2-1167-003

chr9:
79375359-79375359

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PRUNE2

2-1290-003

chr9:
79612893-79612893

T

TTAAAAGAAAAAAATAAATTTAAAAAAAAAAAATAAATAAAA

intergenic

De novo

-

Yuen2017 G

PRUNE2

CC1121.201

chr9:
79328687-79328687

G

A

intronic

De novo

-

2.941E-5

Satterstrom2020 E

PRUNE2

PN400205

chr9:
79441589-79441589

C

A

exonic

Unknown

stopgain

NM_001308047
NM_001308048
NM_015225

c.G568T
c.G568T
c.G568T

p.E190X
p.E190X
p.E190X

35.0

-

Leblond2019 E

PRUNE2

14383.p1

chr9:
79323453-79323453

C

T

exonic

De novo

nonsynonymous SNV

NM_001308047
NM_001308048
NM_015225

c.G3737A
c.G3737A
c.G3737A

p.R1246K
p.R1246K
p.R1246K

12.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

PRUNE2

1-0640-003

chr9:
79445060-79445060

G

A

intronic

De novo

-

Yuen2017 G

PRUNE2

Cukier2014:7590

chr9:
79465455-79465455

C

T

exonic

Unknown

nonsynonymous SNV

NM_001308047
NM_001308048
NM_015225

c.G268A
c.G268A
c.G268A

p.D90N
p.D90N
p.D90N

27.8

0.0093

Cukier2014 E

PRUNE2

NDAR_INVWV443KNU_wes1

chr9:
79520812-79520812

C

G

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

PRUNE2

1-0025-006

chr9:
79571115-79571115

T

TTCCCTCCA

intergenic

De novo

-

Yuen2017 G

PRUNE2

5-0050-003

chr9:
79495868-79495868

C

A

intronic

De novo

-

Yuen2017 G

PRUNE2

AU049304

chr9:
79285760-79285760

C

G

intronic

De novo

-

Yuen2017 G

PRUNE2

SP0000691

chr9:
79267586-79267586

A

C

exonic

De novo

synonymous SNV

NM_001308050
NM_001308051
NM_001308049
NM_001308047
NM_001308048
NM_015225

c.T162G
c.T162G
c.T117G
c.T8370G
c.T8370G
c.T8370G

p.S54S
p.S54S
p.S39S
p.S2790S
p.S2790S
p.S2790S

10.47

-

Feliciano2019 E

PRUNE2

2-0081-003

chr9:
79546148-79546148

C

T

intergenic

De novo

-

Yuen2017 G

PRUNE2

1-0225-003

chr9:
79574091-79574118

GTATATATATATATGTATATATATATAT

GTATATATATATGTATATATATATAT

intergenic

De novo

-

Yuen2017 G

PRUNE2

AU3951301

chr9:
79535292-79535292

G

A

intergenic

De novo

-

Yuen2017 G

PRUNE2

PN400115

chr9:
79465455-79465455

C

T

exonic

Unknown

nonsynonymous SNV

NM_001308047
NM_001308048
NM_015225

c.G268A
c.G268A
c.G268A

p.D90N
p.D90N
p.D90N

27.8

0.0093

Leblond2019 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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