Variant Results

or

Results for "SMARCA4"

Variant Events: 34

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

SMARCA4

AU4234303

chr19:
11084646-11084646

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMARCA4

1-0259-005

chr19:
11138480-11138480

C

T

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.C3236T
c.C3236T
c.C3236T
c.C3236T
c.C3236T
c.C3236T
c.C3236T

p.S1079L
p.S1079L
p.S1079L
p.S1079L
p.S1079L
p.S1079L
p.S1079L

32.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SMARCA4

1026

chr19:
11132500-11132500

C

T

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.C2716T
c.C2716T
c.C2716T
c.C2716T
c.C2716T
c.C2716T
c.C2716T

p.R906C
p.R906C
p.R906C
p.R906C
p.R906C
p.R906C
p.R906C

15.21

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

SMARCA4

Hu2022:34

chr19:
11105513-11105513

A

G

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.A1429G
c.A1429G
c.A1429G
c.A1429G
c.A1429G
c.A1429G
c.A1429G

p.N477D
p.N477D
p.N477D
p.N477D
p.N477D
p.N477D
p.N477D

21.9

-

Hu2022 T

SMARCA4

MT_22.3

chr19:
11101945-11101945

G

T

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.G1365T
c.G1365T
c.G1365T
c.G1365T
c.G1365T
c.G1365T
c.G1365T

p.K455N
p.K455N
p.K455N
p.K455N
p.K455N
p.K455N
p.K455N

20.2

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

SMARCA4

1-0169-003

chr19:
11163512-11163512

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMARCA4

SP0033566

chr19:
11150229-11150231

GGT

G

splicing

Inherited

splicing

-

Feliciano2019 E

SMARCA4

13551.p1

chr19:
11170557-11170557

C

T

exonic

synonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_003072
NM_001128844
NM_001128849

c.C4674T
c.C4671T
c.C4665T
c.C4662T
c.C4764T
c.C4764T
c.C4860T

p.S1558S
p.S1557S
p.S1555S
p.S1554S
p.S1588S
p.S1588S
p.S1620S

-

5.043E-5

Zhou2022 GE

SMARCA4

SP0049284

chr19:
11129654-11129654

C

T

exonic

synonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.C2460T
c.C2460T
c.C2460T
c.C2460T
c.C2460T
c.C2460T
c.C2460T

p.Y820Y
p.Y820Y
p.Y820Y
p.Y820Y
p.Y820Y
p.Y820Y
p.Y820Y

-

8.237E-5

Zhou2022 GE

SMARCA4

Lo2022:16

chr19:
11094897-11094897

C

G

exonic

Paternal

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.C70G
c.C70G
c.C70G
c.C70G
c.C70G
c.C70G
c.C70G

p.P24A
p.P24A
p.P24A
p.P24A
p.P24A
p.P24A
p.P24A

19.73

-

Lo2022 T

SMARCA4

SP0253577

chr19:
11141587-11141587

C

T

intronic

De novo

-

Trost2022 G

SMARCA4

SJD_8.4

chr19:
11142358-11142358

A

T

intronic

De novo

-

Trost2022 G

SMARCA4

SP0209250

chr19:
11130306-11130306

C

T

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.C2545T
c.C2545T
c.C2545T
c.C2545T
c.C2545T
c.C2545T
c.C2545T

p.R849W
p.R849W
p.R849W
p.R849W
p.R849W
p.R849W
p.R849W

15.96

-

Trost2022 G

SMARCA4

SP0211886

chr19:
11138468-11138468

T

C

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.T3224C
c.T3224C
c.T3224C
c.T3224C
c.T3224C
c.T3224C
c.T3224C

p.L1075P
p.L1075P
p.L1075P
p.L1075P
p.L1075P
p.L1075P
p.L1075P

21.0

-

Trost2022 G

SMARCA4

1-1034-003

chr19:
11121441-11121441

G

A

intronic

De novo

-

Trost2022 G

SMARCA4

Lo2022:17

chr19:
11097111-11097111

A

T

exonic

Paternal

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.A602T
c.A602T
c.A602T
c.A602T
c.A602T
c.A602T
c.A602T

p.Q201L
p.Q201L
p.Q201L
p.Q201L
p.Q201L
p.Q201L
p.Q201L

22.6

4.0E-4

Lo2022 T

SMARCA4

7-0105-003

chr19:
11123977-11123977

A

G

intronic

De novo

-

Trost2022 G

SMARCA4

Miyake2023:11181

chr19:
11152025-11152025

C

T

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_003072
NM_001128844
NM_001128849

c.C4123T
c.C4123T
c.C4114T
c.C4114T
c.C4213T
c.C4213T
c.C4309T

p.R1375W
p.R1375W
p.R1372W
p.R1372W
p.R1405W
p.R1405W
p.R1437W

28.5

-

Miyake2023 E

SMARCA4

MSSNG00433-003

chr19:
11071380-11071380

G

C

upstream

De novo

-

Trost2022 G

SMARCA4

2-1781-003

chr19:
11076413-11076413

C

T

intronic

De novo

-

Trost2022 G

SMARCA4

NDAR_INVJF959YMH_wes1

chr19:
11096936-11096936

C

G

exonic

Mosaic

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.C427G
c.C427G
c.C427G
c.C427G
c.C427G
c.C427G
c.C427G

p.P143A
p.P143A
p.P143A
p.P143A
p.P143A
p.P143A
p.P143A

14.8

-

Lim2017 E

SMARCA4

GEA378

chr19:
11170480-11170480

A

G

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_003072
NM_001128844
NM_001128849

c.A4597G
c.A4594G
c.A4588G
c.A4585G
c.A4687G
c.A4687G
c.A4783G

p.K1533E
p.K1532E
p.K1530E
p.K1529E
p.K1563E
p.K1563E
p.K1595E

13.46

-

Fu2022 E

SMARCA4

A170295

chr19:
11144499-11144499

G

A

exonic

De novo

synonymous SNV

NM_001128849
NM_003072
NM_001128844

c.G3831A
c.G3831A
c.G3831A

p.P1277P
p.P1277P
p.P1277P

-

1.753E-5

Fu2022 E

SMARCA4

7-0332-003

chr19:
11146423-11146423

C

T

intronic

De novo

-

Trost2022 G

SMARCA4

mAGRE4739

chr19:
11100073-11100073

C

T

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.C1199T
c.C1199T
c.C1199T
c.C1199T
c.C1199T
c.C1199T
c.C1199T

p.A400V
p.A400V
p.A400V
p.A400V
p.A400V
p.A400V
p.A400V

33.0

-

Cirnigliaro2023 G

SMARCA4

5-0046-003

chr19:
11154288-11154288

C

G

intronic

De novo

-

Trost2022 G

SMARCA4

1-1018-003

chr19:
11145065-11145065

G

A

intronic

De novo

-

Trost2022 G

SMARCA4

MSSNG00436-003

chr19:
11145419-11145419

G

A

intronic

De novo

-

Trost2022 G

SMARCA4

DEASD_0072_001

chr19:
11096052-11096052

C

T

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.C326T
c.C326T
c.C326T
c.C326T
c.C326T
c.C326T
c.C326T

p.P109L
p.P109L
p.P109L
p.P109L
p.P109L
p.P109L
p.P109L

32.0

8.409E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SMARCA4

DEASD_0150_001

chr19:
11097060-11097060

T

C

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.T551C
c.T551C
c.T551C
c.T551C
c.T551C
c.T551C
c.T551C

p.I184T
p.I184T
p.I184T
p.I184T
p.I184T
p.I184T
p.I184T

22.8

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SMARCA4

Mahjani2021:68

chr19:
11144847-11144847

C

T

exonic

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.C3823T
c.C3823T
c.C3823T
c.C3823T
c.C3922T
c.C3922T
c.C3922T

p.R1275W
p.R1275W
p.R1275W
p.R1275W
p.R1308W
p.R1308W
p.R1308W

19.3

-

Mahjani2021 E

SMARCA4

Mahjani2021:61

chr19:
11123787-11123787

T

G

exonic

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844

c.T2437G
c.T2437G
c.T2437G
c.T2437G
c.T2437G
c.T2437G
c.T2437G

p.S813A
p.S813A
p.S813A
p.S813A
p.S813A
p.S813A
p.S813A

27.8

-

Mahjani2021 E

SMARCA4

G01_GEA530HI

chr19:
11145450-11145450

G

T

intronic

De novo

-

Fu2022 E

SMARCA4

NP115

chr19:
11152025-11152025

C

T

exonic

De novo

nonsynonymous SNV

NM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_003072
NM_001128844
NM_001128849

c.C4123T
c.C4123T
c.C4114T
c.C4114T
c.C4213T
c.C4213T
c.C4309T

p.R1375W
p.R1375W
p.R1372W
p.R1372W
p.R1405W
p.R1405W
p.R1437W

28.5

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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