Variant Results

or

Results for "SMARCA2"

Variant Events: 86

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

SMARCA2

B0154

chr9:
2086856-2086856

G

A

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G2554A
c.G2554A
c.G2554A
c.G2554A

p.E852K
p.E852K
p.E852K
p.E852K

33.0

-

Xiong2019 ET

SMARCA2

1-0045-004

chr9:
2326058-2326058

G

A

intergenic

De novo

-

Yuen2017 G

SMARCA2

B0153

chr9:
2110355-2110355

G

A

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G3394A
c.G3220A
c.G3394A
c.G3394A

p.G1132S
p.G1074S
p.G1132S
p.G1132S

35.0

-

Xiong2019 ET

SMARCA2

5-5153-003

chr9:
2115874-2115874

G

C

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G3509C
c.G3335C
c.G3509C
c.G3509C

p.R1170P
p.R1112P
p.R1170P
p.R1170P

20.9

-

Trost2022 G
Zhou2022 GE

SMARCA2

B0339

chr9:
2086866-2086866

G

A

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G2564A
c.G2564A
c.G2564A
c.G2564A

p.R855Q
p.R855Q
p.R855Q
p.R855Q

34.0

-

Xiong2019 ET

SMARCA2

2-1305-003

chr9:
2494512-2494512

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SMARCA2

4-0014-003

chr9:
2192645-2192645

T

C

intronic

De novo

-

Trost2022 G

SMARCA2

1-0562-003

chr9:
2179890-2179890

C

G

intronic

De novo

-

Trost2022 G

SMARCA2

3-0612-000

chr9:
2191834-2191834

C

A

intronic

De novo

-

Trost2022 G

SMARCA2

Mahjani2021:30

chr9:
2073213-2073213

C

T

exonic

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.C1748T
c.C1748T
c.C1748T
c.C1748T

p.P583L
p.P583L
p.P583L
p.P583L

22.0

-

Mahjani2021 E

SMARCA2

3F899

chr9:
2104169-2104169

G

C

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G3292C
c.G3118C
c.G3292C
c.G3292C

p.G1098R
p.G1040R
p.G1098R
p.G1098R

25.1

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SMARCA2

2-1438-003

chr9:
2316962-2316962

C

T

intergenic

De novo

-

Yuen2017 G

SMARCA2

ASC_CA_181_A

chr9:
2115855-2115855

G

T

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G3490T
c.G3316T
c.G3490T
c.G3490T

p.G1164W
p.G1106W
p.G1164W
p.G1164W

21.2

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SMARCA2

Ishay2021:31

chr9:
2039778-2039780

AGC

A

exonic

Inherited

frameshift deletion

NM_001289396
NM_001289397
NM_003070
NM_139045

c.669_670del
c.669_670del
c.669_670del
c.669_670del

p.Q223fs
p.Q223fs
p.Q223fs
p.Q223fs

-

Ishay2021 E

SMARCA2

AU2410302

chr9:
2049294-2049294

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMARCA2

Mahjani2021:43

chr9:
2110399-2110399

C

A

exonic

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.C3438A
c.C3264A
c.C3438A
c.C3438A

p.S1146R
p.S1088R
p.S1146R
p.S1146R

17.77

-

Mahjani2021 E

SMARCA2

1-0579-003

chr9:
2451183-2451183

A

G

intergenic

De novo

-

Yuen2017 G

SMARCA2

3-0246-000

chr9:
2018383-2018383

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMARCA2

3-0018-000

chr9:
2521383-2521383

C

T

intergenic

De novo

-

Yuen2017 G

SMARCA2

AU3057301

chr9:
2418946-2418946

G

T

intergenic

De novo

-

Yuen2017 G

SMARCA2

2-1364-003

chr9:
2475651-2475651

T

C

intergenic

De novo

-

Yuen2017 G

SMARCA2

mAGRE4631

chr9:
2110274-2110274

C

G

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.C3313G
c.C3139G
c.C3313G
c.C3313G

p.R1105G
p.R1047G
p.R1105G
p.R1105G

19.59

-

Cirnigliaro2023 G

SMARCA2

mAGRE4070

chr9:
2104161-2104161

G

A

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G3284A
c.G3110A
c.G3284A
c.G3284A

p.R1095H
p.R1037H
p.R1095H
p.R1095H

32.0

-

Cirnigliaro2023 G

SMARCA2

PN400581

chr9:
2182234-2182234

G

A

exonic

Unknown

nonsynonymous SNV

NM_001289398
NM_001289399
NM_001289400
NM_001289397
NM_139045
NM_001289396
NM_003070

c.G427A
c.G511A
c.G517A
c.G4225A
c.G4399A
c.G4453A
c.G4453A

p.G143R
p.G171R
p.G173R
p.G1409R
p.G1467R
p.G1485R
p.G1485R

19.95

-

Leblond2019 E

SMARCA2

2-1690-003

chr9:
2184861-2184867

TCGCGCG

TCGCG

intronic

De novo

-

Yuen2017 G

SMARCA2

AU008505

chr9:
2501291-2501291

T

A

intergenic

De novo

-

Yuen2017 G

SMARCA2

2-1456-004

chr9:
2207938-2207938

T

C

intergenic

De novo

-

Yuen2017 G

SMARCA2

2-1456-004

chr9:
2203839-2203839

T

G

intergenic

De novo

-

Yuen2017 G

SMARCA2

2-1456-004

chr9:
2198906-2198906

G

A

intergenic

De novo

-

Yuen2017 G

SMARCA2

2-1456-004

chr9:
2196367-2196367

T

A

intergenic

De novo

-

Yuen2017 G

SMARCA2

PN400582

chr9:
2182234-2182234

G

A

exonic

Unknown

nonsynonymous SNV

NM_001289398
NM_001289399
NM_001289400
NM_001289397
NM_139045
NM_001289396
NM_003070

c.G427A
c.G511A
c.G517A
c.G4225A
c.G4399A
c.G4453A
c.G4453A

p.G143R
p.G171R
p.G173R
p.G1409R
p.G1467R
p.G1485R
p.G1485R

19.95

-

Leblond2019 E

SMARCA2

Chen2021:69

chr9:
2110355-2110355

G

A

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G3394A
c.G3220A
c.G3394A
c.G3394A

p.G1132S
p.G1074S
p.G1132S
p.G1132S

35.0

-

Chen2021 GET

SMARCA2

Chen2021:68

chr9:
2086866-2086866

G

A

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G2564A
c.G2564A
c.G2564A
c.G2564A

p.R855Q
p.R855Q
p.R855Q
p.R855Q

34.0

-

Chen2021 GET

SMARCA2

2-0318-004

chr9:
2293528-2293528

T

C

intergenic

De novo

-

Yuen2017 G

SMARCA2

5-0138-003

chr9:
2192969-2192969

T

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

SMARCA2

Chen2021:67

chr9:
2086856-2086856

G

A

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G2554A
c.G2554A
c.G2554A
c.G2554A

p.E852K
p.E852K
p.E852K
p.E852K

33.0

-

Chen2021 GET

SMARCA2

1-0385-003

chr9:
2335451-2335451

G

A

intergenic

De novo

-

Yuen2017 G

SMARCA2

1-0180-004

chr9:
2147841-2147841

C

T

intronic

De novo

-

Yuen2017 G

SMARCA2

SP0025229

chr9:
2159778-2159778

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

SMARCA2

5-0088-003

chr9:
2394783-2394783

C

G

intergenic

De novo

-

Yuen2017 G

SMARCA2

AU3517301

chr9:
2320407-2320407

G

A

intergenic

De novo

-

Yuen2017 G

SMARCA2

2-0208-003

chr9:
2387156-2387156

A

G

intergenic

De novo

-

Yuen2017 G

SMARCA2

2-0043-003

chr9:
2481673-2481673

T

C

intergenic

De novo

-

Yuen2017 G

SMARCA2

2-1477-003

chr9:
2208624-2208624

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SMARCA2

Lo2022:10

chr9:
2060973-2060973

G

A

exonic

Maternal

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.G1679A
c.G1679A
c.G1679A
c.G1679A

p.R560K
p.R560K
p.R560K
p.R560K

8.501

1.702E-5

Lo2022 T

SMARCA2

Lo2022:9

chr9:
2039561-2039561

A

T

exonic

Unknown

nonsynonymous SNV

NM_001289396
NM_001289397
NM_003070
NM_139045

c.A451T
c.A451T
c.A451T
c.A451T

p.S151C
p.S151C
p.S151C
p.S151C

18.53

-

Lo2022 T

SMARCA2

1-0757-003

chr9:
2123493-2123499

TATGAAT

TAT

intronic

De novo

-

Yuen2017 G

SMARCA2

7-0001-003

chr9:
2060465-2060465

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMARCA2

Lo2022:11

chr9:
2191407-2191407

G

A

exonic

Unknown

nonsynonymous SNV

NM_001289398
NM_001289399
NM_001289400
NM_001289397
NM_139045
NM_001289396
NM_003070

c.G710A
c.G794A
c.G800A
c.G4508A
c.G4682A
c.G4736A
c.G4736A

p.R237H
p.R265H
p.R267H
p.R1503H
p.R1561H
p.R1579H
p.R1579H

15.74

4.12E-5

Lo2022 T

SMARCA2

3-0080-000

chr9:
2478607-2478607

C

T

intergenic

De novo

-

Yuen2016 G

SMARCA2

Li2017:23792

chr9:
2077677-2077678

CA

C

exonic

Unknown

frameshift deletion

NM_001289396
NM_001289397
NM_003070
NM_139045

c.2086delA
c.2086delA
c.2086delA
c.2086delA

p.R696fs
p.R696fs
p.R696fs
p.R696fs

-

Li2017 T

SMARCA2

2-0295-004

chr9:
2113090-2113090

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMARCA2

2-1406-003

chr9:
2128704-2128704

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SMARCA2

1-0466-003

chr9:
2060024-2060024

T

G

intronic

De novo

-

Yuen2017 G

SMARCA2

3-0447-000

chr9:
2159543-2159547

CTTAA

C

intronic

De novo

-

Trost2022 G
Yuen2016 G

SMARCA2

1-0161-004

chr9:
2291744-2291744

C

T

intergenic

De novo

-

Yuen2017 G

SMARCA2

AU2089302

chr9:
2161750-2161750

G

A

exonic

De novo

nonsynonymous SNV

NM_001289398
NM_001289399
NM_001289400
NM_001289396
NM_001289397
NM_003070
NM_139045

c.G74A
c.G158A
c.G164A
c.G4046A
c.G3872A
c.G4046A
c.G4046A

p.R25Q
p.R53Q
p.R55Q
p.R1349Q
p.R1291Q
p.R1349Q
p.R1349Q

18.12

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SMARCA2

MSSNG00202-003

chr9:
2042756-2042756

T

A

intronic

De novo

-

Trost2022 G

SMARCA2

11821-1

chr9:
2170415-2170415

G

A

intronic

De novo

-

4.0E-4

Fu2022 E

SMARCA2

2-1605-004

chr9:
2043341-2043358

GTGGTTTCCCCTACAAAA

G

intronic

De novo

-

Trost2022 G

SMARCA2

4-0085-003

chr9:
2027013-2027013

C

G

intronic

De novo

-

Trost2022 G

SMARCA2

AU009805

chr9:
2466044-2466044

T

C

intergenic

De novo

-

Yuen2017 G

SMARCA2

7-0150-003

chr9:
2037897-2037897

A

G

intronic

De novo

-

Trost2022 G

SMARCA2

2-1594-003

chr9:
2019832-2019832

C

T

intronic

De novo

-

Trost2022 G

SMARCA2

1-1131-003

chr9:
2024423-2024423

T

G

intronic

De novo

-

Trost2022 G

SMARCA2

1-0259-005

chr9:
2225385-2225385

C

G

intergenic

De novo

-

Yuen2017 G

SMARCA2

1-0481-003

chr9:
2147664-2147667

GGCA

AGTG

intronic

De novo

-

Trost2022 G

SMARCA2

1-0305-004

chr9:
2147796-2147797

TG

CA

intronic

De novo

-

Trost2022 G

SMARCA2

AU3636302

chr9:
2112736-2112736

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMARCA2

SP0147167

chr9:
2115797-2115797

C

T

intronic

De novo

-

Trost2022 G

SMARCA2

5-5177-003

chr9:
2138805-2138805

C

T

intronic

De novo

-

Trost2022 G

SMARCA2

SP0232949

chr9:
2073361-2073361

G

A

intronic

De novo

-

5.0E-4

Trost2022 G

SMARCA2

AU2579302

chr9:
2112614-2112614

C

A

intronic

De novo

-

Trost2022 G

SMARCA2

REACH000171

chr9:
2050254-2050254

C

A

intronic

De novo

-

Trost2022 G

SMARCA2

4-0088-003

chr9:
2063671-2063671

G

T

intronic

De novo

-

Trost2022 G

SMARCA2

9-0027-003

chr9:
2166390-2166390

T

C

intronic

De novo

-

Trost2022 G

SMARCA2

SP0192518

chr9:
2170426-2170426

G

A

exonic

De novo

nonsynonymous SNV

NM_001289396
NM_003070

c.G4207A
c.G4207A

p.V1403M
p.V1403M

12.57

9.0E-4

Trost2022 G

SMARCA2

2-1659-003

chr9:
2154902-2154902

G

A

intronic

De novo

-

Trost2022 G

SMARCA2

1-0652-003

chr9:
2040341-2040341

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMARCA2

1-1070-003

chr9:
2163659-2163659

T

C

intronic

De novo

-

Trost2022 G

SMARCA2

1-0305-004

chr9:
2147800-2147804

TTCGC

ATTGT

intronic

De novo

-

Trost2022 G

SMARCA2

4-0075-003

chr9:
2147800-2147804

TTCGC

ATTGT

intronic

De novo

-

Trost2022 G

SMARCA2

1-0553-003

chr9:
2262213-2262213

T

C

intergenic

De novo

-

Yuen2017 G

SMARCA2

4-0075-003

chr9:
2147796-2147797

TG

CA

intronic

De novo

-

Trost2022 G

SMARCA2

1-0772-003

chr9:
2334886-2334886

C

T

intergenic

De novo

-

Yuen2017 G

SMARCA2

7-0133-003

chr9:
2147800-2147804

TTCGC

ATTGT

intronic

De novo

-

Trost2022 G

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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