Variant Results

or

Results for "DNMT3A"

Variant Events: 25

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

DNMT3A

2-1314-003

chr2:
25483814-25483814

G

A

intronic

De novo

-

Yuen2016 G

DNMT3A

SSC06157

chr2:
25464520-25464520

C

A

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.G1426T
c.G1993T
c.G1993T

p.V476L
p.V665L
p.V665L

33.0

8.343E-6

Lim2017 E

DNMT3A

Mahjani2021:92

chr2:
25468153-25468153

A

G

exonic

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.T956C
c.T1523C
c.T1523C

p.L319P
p.L508P
p.L508P

23.9

-

Mahjani2021 E

DNMT3A

14336.p1

chr2:
25457176-25457176

G

A

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.C2144T
c.C2711T
c.C2711T

p.P715L
p.P904L
p.P904L

19.87

9.067E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

DNMT3A

12512.p1

chr2:
25464520-25464520

C

A

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.G1426T
c.G1993T
c.G1993T

p.V476L
p.V665L
p.V665L

33.0

8.343E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Wilfert2021 G

DNMT3A

12311.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_022552
NM_175629
NM_175630
NM_022552
NM_175629
NM_175630

c.401dupA
c.401dupA
c.401dupA
c.400dupA
c.400dupA
c.400dupA

p.N134fs
p.N134fs
p.N134fs
p.N134fs
p.N134fs
p.N134fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

DNMT3A

2-1276-003

chr2:
25466800-25466800

G

A

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.C1336T
c.C1903T
c.C1903T

p.R446W
p.R635W
p.R635W

28.0

9.526E-5

Jiang2013 G
Yuen2016 G
Yuen2017 G

DNMT3A

AU3760301

chr2:
25469901-25469901

T

A

intronic

De novo

-

Yuen2017 G

DNMT3A

Yamamoto2019:7

chr2:
25469088-25469089

GG

G

exonic

De novo

frameshift deletion

NM_153759
NM_022552
NM_175629

c.802delC
c.1369delC
c.1369delC

p.P268fs
p.P457fs
p.P457fs

-

Yamamoto2019 T

DNMT3A

AU063004

chr2:
25561431-25561431

G

A

intronic

De novo

-

Yuen2017 G

DNMT3A

Husson2020:328

chr2:
25471016-25471016

G

A

exonic

stopgain

NM_153759
NM_022552
NM_175629

c.C178T
c.C745T
c.C745T

p.Q60X
p.Q249X
p.Q249X

40.0

8.24E-6

Husson2020 E

DNMT3A

SP0025576

chr2:
25464487-25464487

G

A

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.C1459T
c.C2026T
c.C2026T

p.R487W
p.R676W
p.R676W

27.5

-

Feliciano2019 E

DNMT3A

2-1195-003

chr2:
25547340-25547340

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DNMT3A

SP0026933

chr2:
25463566-25463566

C

T

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.G1549A
c.G2116A
c.G2116A

p.G517R
p.G706R
p.G706R

32.0

-

Feliciano2019 E

DNMT3A

80001101008

chr2:
25468153-25468153

A

G

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.T956C
c.T1523C
c.T1523C

p.L319P
p.L508P
p.L508P

23.9

-

Satterstrom2020 E

DNMT3A

2-1567-003

chr2:
25556272-25556272

C

T

intronic

De novo

-

Yuen2017 G

DNMT3A

G01-GEA-317-HI

chr2:
25463568-25463568

A

G

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.T1547C
c.T2114C
c.T2114C

p.I516T
p.I705T
p.I705T

25.5

-

Satterstrom2020 E

DNMT3A

09C99826

chr2:
25466800-25466800

G

A

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.C1336T
c.C1903T
c.C1903T

p.R446W
p.R635W
p.R635W

28.0

9.526E-5

Satterstrom2020 E

DNMT3A

14065.p1

chr2:
25511797-25511797

C

A

intronic

De novo

-

Wilfert2021 G

DNMT3A

2-1475-003

chr2:
25580688-25580688

C

G

intergenic

De novo

-

Yuen2017 G

DNMT3A

20572-32334

chr2:
25462044-25462044

G

A

exonic

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.C1796T
c.C2363T
c.C2363T

p.A599V
p.A788V
p.A788V

28.7

-

Callaghan2019 G

DNMT3A

AU4283301

chr2:
25573305-25573305

T

C

intergenic

De novo

-

Yuen2017 G

DNMT3A

2-1180-003

chr2:
25476100-25476100

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DNMT3A

IGM5219

chr2:
25463195-25463197

CTT

C

exonic

De novo

frameshift deletion

NM_153759
NM_022552
NM_175629

c.1729_1730del
c.2296_2297del
c.2296_2297del

p.K577fs
p.K766fs
p.K766fs

-

1.65E-5

Satterstrom2020 E

DNMT3A

DEASD_0131_001

chr2:
25463289-25463289

T

C

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.A1637G
c.A2204G
c.A2204G

p.Y546C
p.Y735C
p.Y735C

21.3

1.0E-4

DeRubeis2014 E
Kosmicki2017 E
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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