Variant Results

or

Results for "SETD2"

Variant Events: 61

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

SETD2

13783.p1

chr3:
47164944-47164944

A

T

exonic

Paternal

stopgain

NM_014159

c.T1182A

p.C394X

28.6

-

O’Roak2012a T

SETD2

12736.p1

chr3:
47205396-47205396

G

A

exonic

Maternal

stopgain

NM_014159

c.C19T

p.Q7X

26.6

7.372E-5

O’Roak2012a T

SETD2

12565.p1

chr3:
47098932-47098933

AT

A

exonic

Unknown, De novo

frameshift deletion

NM_014159

c.6341delA

p.N2114fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

SETD2

5-5025-003

chr3:
47058745-47058745

C

A

splicing

De novo

splicing

23.5

-

Trost2022 G
Zhou2022 GE

SETD2

mAGRE4852

chr3:
47205396-47205396

G

A

exonic

Paternal

stopgain

NM_014159

c.C19T

p.Q7X

26.6

7.372E-5

Cirnigliaro2023 G

SETD2

SAGE_BK856-01

chr3:
47058735-47058735

C

CGT

exonic

Unknown

frameshift insertion

NM_014159

c.7542_7543insAC

p.G2515fs

-

Wang2020 T

SETD2

mAGRE1777

chr3:
47061324-47061324

T

TC

exonic

De novo

frameshift insertion

NM_014159

c.7356dupG

p.K2453fs

-

Cirnigliaro2023 G

SETD2

ACGC_GX0390.p1

chr3:
47103785-47103785

G

A

exonic

Unknown

nonsynonymous SNV

NM_014159

c.C6161T

p.P2054L

19.19

6.589E-5

Wang2020 T

SETD2

150942042

chr3:
47164140-47164140

T

C

exonic

De novo

synonymous SNV

NM_014159

c.A1986G

p.Q662Q

-

2.0E-4

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SETD2

AGRE_03C15985

chr3:
47088078-47088078

C

T

exonic

Unknown

nonsynonymous SNV

NM_014159

c.G6997A

p.G2333R

25.2

-

Wang2020 T

SETD2

ACGC_HEN477.p1

chr3:
47155365-47155365

C

T

splicing

Unknown

splicing

23.1

-

Wang2020 T

SETD2

AGRE_03C16162

chr3:
47098880-47098880

G

A

exonic

Unknown

nonsynonymous SNV

NM_014159

c.C6394T

p.R2132W

17.54

8.238E-6

Wang2020 T

SETD2

1-0454-003

chr3:
47182080-47182080

G

A

intronic

De novo

-

Yuen2016 G

SETD2

Greenwood_Cms15744

chr3:
47164759-47164759

C

T

exonic

Unknown

nonsynonymous SNV

NM_014159

c.G1367A

p.R456Q

23.7

-

Wang2020 T

SETD2

ACGC_HEN0389.p1

chr3:
47164927-47164927

C

T

exonic

Unknown

nonsynonymous SNV

NM_014159

c.G1199A

p.R400Q

22.3

-

Wang2020 T

SETD2

ACGC_HEN455.p1

chr3:
47164927-47164927

C

T

exonic

Unknown

nonsynonymous SNV

NM_014159

c.G1199A

p.R400Q

22.3

-

Wang2020 T

SETD2

1-0458-003

chr3:
47068050-47068050

T

C

intronic

De novo

-

Yuen2017 G

SETD2

SP0075343

chr3:
47162475-47162475

C

T

exonic

De novo

stopgain

NM_014159

c.G3651A

p.W1217X

37.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SETD2

SSC05627

chr3:
47098932-47098933

AT

A

exonic

frameshift deletion

NM_014159

c.6341delA

p.N2114fs

-

Antaki2022 GE

SETD2

Husson2020:188

chr3:
47139465-47139465

G

A

exonic

De novo

stopgain

NM_014159

c.C5122T

p.R1708X

46.0

-

Husson2020 E

SETD2

03C15985

chr3:
47088078-47088078

C

T

exonic

Unknown

nonsynonymous SNV

NM_014159

c.G6997A

p.G2333R

25.2

-

Stessman2017 T

SETD2

03C16162

chr3:
47098880-47098880

G

A

exonic

Unknown

nonsynonymous SNV

NM_014159

c.C6394T

p.R2132W

17.54

8.238E-6

Stessman2017 T

SETD2

G01-GEA-203-HI

chr3:
47127782-47127800

AGGCAGGACTGTGAGTGTG

A

exonic

De novo

nonframeshift deletion

NM_014159

c.5282_5299del

p.1761_1767del

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SETD2

1-0595-005

chr3:
47060996-47060996

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETD2

AU4235301

chr3:
47076781-47076781

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETD2

M16165

Complex Event; expand row to view variants

Unknown

nonsynonymous SNV

NM_014159
NM_014159

c.C6161G
c.C6161T

p.P2054R
p.P2054L

19.19

6.589E-5

Stessman2017 T
Stessman2017 T

SETD2

2-1402-003

chr3:
47074924-47074924

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETD2

SF0075343.p1

chr3:
47162475-47162475

C

T

exonic

stopgain

NM_014159

c.G3651A

p.W1217X

37.0

-

Wang2020 T

SETD2

iHART1777

chr3:
47061324-47061324

T

TC

exonic

De novo

frameshift insertion

NM_014159

c.7356dupG

p.K2453fs

-

Ruzzo2019 G

SETD2

37403

chr3:
47166005-47166005

T

A

exonic

De novo

nonsynonymous SNV

NM_014159

c.A121T

p.I41F

11.88

-

Fu2022 E
Trost2022 G

SETD2

Alvarez-Mora2016:ASD-20

chr3:
47103768-47103768

A

G

exonic

Paternal

nonsynonymous SNV

NM_014159

c.T6178C

p.S2060P

19.22

-

Alvarez-Mora2016 T

SETD2

AU1542301

chr3:
47158629-47158629

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETD2

Lim2017:37403

chr3:
47166005-47166005

T

A

exonic

De novo

nonsynonymous SNV

NM_014159

c.A121T

p.I41F

11.88

-

Lim2017 E

SETD2

160153_0

chr3:
47143085-47143087

TTA

T

intronic

De novo

-

Fu2022 E

SETD2

AU06304

chr3:
47161785-47161785

G

A

exonic

De novo

synonymous SNV

NM_014159

c.C4341T

p.P1447P

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SETD2

10C117850

chr3:
47164140-47164140

T

C

exonic

De novo

synonymous SNV

NM_014159

c.A1986G

p.Q662Q

-

2.0E-4

DeRubeis2014 E
Kosmicki2017 E

SETD2

AU4250301

chr3:
47161506-47161506

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETD2

More2023:14

chr3:
47165380-47165380

G

A

exonic

Inherited

nonsynonymous SNV

NM_014159

c.C746T

p.S249F

11.1

-

More2023 G

SETD2

12175.p1

chr3:
47101600-47101600

C

A

intronic

De novo

-

Turner2016 G

SETD2

3-0065-000

chr3:
47169922-47169922

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETD2

14036.p1

chr3:
47168087-47168087

G

T

intronic

Mosaic Pat.

-

Dou2017 E

SETD2

AN00090

chr3:
47164663-47164663

T

C

exonic

Unknown

nonsynonymous SNV

NM_014159

c.A1463G

p.Y488C

13.81

2.727E-5

D’Gama2015 T

SETD2

More2023:10

chr3:
47164711-47164711

C

T

exonic

Inherited

nonsynonymous SNV

NM_014159

c.G1415A

p.R472H

20.7

7.0E-4

More2023 G

SETD2

AU3888302

chr3:
47063506-47063506

G

A

intronic

De novo

-

Yuen2017 G

SETD2

D’Gama2015:5297

chr3:
47127776-47127776

G

T

exonic

Unknown

nonsynonymous SNV

NM_014159

c.C5306A

p.S1769Y

14.58

8.251E-6

D’Gama2015 T

SETD2

Leuven2_66905894

chr3:
47164452-47164457

GGTAGA

G

exonic

Unknown

frameshift deletion

NM_014159

c.1669_1673del

p.S557fs

-

Wang2020 T

SETD2

UK20244

chr3:
47144882-47144882

G

C

exonic

Mosaic

nonsynonymous SNV

NM_014159

c.C4871G

p.S1624C

26.1

-

D’Gama2015 T

SETD2

Leuven_351980

chr3:
47164586-47164587

GT

G

exonic

Unknown

frameshift deletion

NM_014159

c.1539delA

p.K513fs

-

Wang2020 T

SETD2

REACH000653

chr3:
47181601-47181601

C

G

intronic

De novo

-

Trost2022 G

SETD2

7-0438-003

chr3:
47189885-47189885

T

C

intronic

De novo

-

Trost2022 G

SETD2

12565_p1

chr3:
47098932-47098933

AT

A

exonic

De novo

frameshift deletion

NM_014159

c.6341delA

p.N2114fs

-

Fu2022 E

SETD2

MSSNG00133-003

chr3:
47072221-47072221

G

A

intronic

De novo

-

Trost2022 G

SETD2

14569.p1

chr3:
47166005-47166005

T

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_014159

c.A121T

p.I41F

11.88

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE

SETD2

SP0146662

chr3:
47098487-47098487

C

T

exonic

De novo

nonsynonymous SNV

NM_014159

c.G6787A

p.G2263S

23.0

-

Trost2022 G

SETD2

MSSNG00069-003

chr3:
47071806-47071806

T

C

intronic

De novo

-

Trost2022 G

SETD2

SP0012582

chr3:
47122342-47122342

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

SETD2

2-1174-006

chr3:
47068050-47068050

T

C

intronic

De novo

-

Yuen2017 G

SETD2

SP0145368

chr3:
47205453-47205453

G

A

UTR5

De novo

-

Trost2022 G

SETD2

1-0485-003

chr3:
47161175-47161175

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETD2

Yalcintepe2021:6

chr3:
47164649-47164649

G

C

exonic

nonsynonymous SNV

NM_014159

c.C1477G

p.R493G

13.78

-

Yalcintepe2021 T

SETD2

SAGE_556.03

chr3:
47098932-47098933

AT

A

exonic

De novo

frameshift deletion

NM_014159

c.6341delA

p.N2114fs

-

Wang2020 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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