Variant Results

or

Results for "SMARCC2"

Variant Events: 22

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

SMARCC2

AU1188303

chr12:
56566407-56566407

G

A

exonic

Unknown

nonsynonymous SNV

NM_003075
NM_001130420
NM_139067

c.C1732T
c.C1825T
c.C1825T

p.R578C
p.R609C
p.R609C

18.19

1.647E-5

Wang2020 T
Wang2020 T

SMARCC2

HEN0004.p1

chr12:
56565666-56565666

C

T

exonic

Unknown

nonsynonymous SNV

NM_003075
NM_001130420
NM_139067

c.G1889A
c.G1982A
c.G1982A

p.R630H
p.R661H
p.R661H

27.0

-

Wang2020 T
Wang2020 T

SMARCC2

AU0146301

chr12:
56594411-56594411

A

G

intergenic

De novo

-

Yuen2017 G

SMARCC2

AU043804

chr12:
56566053-56566053

A

G

intronic

De novo

-

Yuen2017 G

SMARCC2

HEN442.p1

chr12:
56566489-56566489

C

T

splicing

Unknown

splicing

19.74

-

Wang2020 T
Wang2020 T

SMARCC2

1-0232-004

chr12:
56565311-56565311

T

A

intronic

De novo

-

Yuen2017 G

SMARCC2

09C90312

chr12:
56566368-56566368

C

A

splicing

De novo

splicing

18.68

-

Neale2012 E
O’Roak2014 T
Willsey2013 E

SMARCC2

09C82996

chr12:
56575360-56575360

G

A

exonic

Paternal

stopgain

NM_001130420
NM_003075
NM_139067

c.C862T
c.C862T
c.C862T

p.R288X
p.R288X
p.R288X

34.0

-

Stessman2017 T
Wang2020 T
Wang2020 T

SMARCC2

iHART2948

chr12:
56575360-56575360

G

A

exonic

Paternal

stopgain

NM_001130420
NM_003075
NM_139067

c.C862T
c.C862T
c.C862T

p.R288X
p.R288X
p.R288X

34.0

-

Ruzzo2019 G

SMARCC2

1255JS0019

chr12:
56566368-56566368

C

A

splicing

De novo

splicing

18.68

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T

SMARCC2

1-0352-003

chr12:
56590622-56590622

C

T

intergenic

De novo

-

Yuen2016 G

SMARCC2

iHART2949

chr12:
56575360-56575360

G

A

exonic

Paternal

stopgain

NM_001130420
NM_003075
NM_139067

c.C862T
c.C862T
c.C862T

p.R288X
p.R288X
p.R288X

34.0

-

Ruzzo2019 G

SMARCC2

1-0352-005

chr12:
56590622-56590622

C

T

intergenic

De novo

-

Yuen2017 G

SMARCC2

200675470@1082034721

chr12:
56566368-56566368

C

A

splicing

De novo

splicing

18.68

-

Satterstrom2020 E

SMARCC2

1-0099-003

chr12:
56567575-56567575

G

A

exonic

De novo

stopgain

NM_001130420
NM_003075
NM_139067

c.C1555T
c.C1555T
c.C1555T

p.R519X
p.R519X
p.R519X

38.0

-

Wang2020 T
Yuen2017 G

SMARCC2

SF0012327.p1

chr12:
56559111-56559112

CA

C

exonic

De novo

frameshift deletion

NM_003075
NM_001130420
NM_139067

c.3129delT
c.3222delT
c.3222delT

p.P1043fs
p.P1074fs
p.P1074fs

-

4.776E-5

Wang2020 T

SMARCC2

SF0041340.p1

chr12:
56578705-56578705

G

A

exonic

De novo

stopgain

NM_001130420
NM_003075
NM_139067

c.C415T
c.C415T
c.C415T

p.R139X
p.R139X
p.R139X

35.0

-

Wang2020 T

SMARCC2

381120

Complex Event; expand row to view variants

Inherited, Unknown

frameshift deletion

NM_003075
NM_001130420
NM_139067

c.3129delT
c.3222delT
c.3222delT

p.P1043fs
p.P1074fs
p.P1074fs

-

4.776E-5

Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T

SMARCC2

SF0108725.p1

chr12:
56575376-56575377

GT

G

exonic

De novo

frameshift deletion

NM_001130420
NM_003075
NM_139067

c.845delA
c.845delA
c.845delA

p.N282fs
p.N282fs
p.N282fs

-

Wang2020 T

SMARCC2

AU2554301

chr12:
56575360-56575360

G

A

exonic

Paternal, Unknown

stopgain

NM_001130420
NM_003075
NM_139067

c.C862T
c.C862T
c.C862T

p.R288X
p.R288X
p.R288X

34.0

-

Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T

SMARCC2

12836.p1

chr12:
56558283-56558283

C

G

exonic

De novo

synonymous SNV

NM_003075

c.G3372C

p.P1124P

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

SMARCC2

M04463

chr12:
56572592-56572592

A

T

splicing

Unknown

splicing

23.0

-

Guo2018 T
Wang2016 T
Wang2020 T
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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