Variant Results

or

Results for "ADCY5"

Variant Events: 44

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

ADCY5

MSSNG00421-008

chr3:
123008847-123008847

C

G

intronic

De novo

-

Trost2022 G

ADCY5

Stessman2017:ASD_1146

chr3:
123046467-123046467

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199642
NM_183357

c.C895T
c.C1945T

p.R299W
p.R649W

20.5

-

Stessman2017 T

ADCY5

MSSNG00054-004

chr3:
123065174-123065174

G

A

intronic

De novo

-

Trost2022 G

ADCY5

1-0898-003

chr3:
123046669-123046669

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADCY5

2-1416-004

chr3:
123126428-123126428

A

G

intronic

De novo

-

Yuen2017 G

ADCY5

12688.p1

chr3:
123049782-123049782

C

T

exonic

De novo

nonsynonymous SNV

NM_001199642
NM_183357

c.G550A
c.G1600A

p.A184T
p.A534T

37.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ADCY5

4900

chr3:
123046605-123046605

G

A

exonic

De novo

nonsynonymous SNV

NM_001199642
NM_183357

c.C757T
c.C1807T

p.R253C
p.R603C

23.2

1.661E-5

Fu2022 E
Trost2022 G

ADCY5

3-0201-000

chr3:
123158764-123158764

G

T

intronic

De novo

-

Trost2022 G

ADCY5

M20882

chr3:
123022988-123022988

G

A

exonic

Unknown

nonsynonymous SNV

NM_001199642
NM_183357

c.C1435T
c.C2485T

p.R479W
p.R829W

26.4

3.328E-5

Stessman2017 T

ADCY5

M16064

chr3:
123008708-123008708

C

T

exonic

Paternal

nonsynonymous SNV

NM_001199642
NM_183357

c.G2371A
c.G3421A

p.D791N
p.D1141N

35.0

-

Guo2018 T
Wang2016 T

ADCY5

5-5021-003

chr3:
123158815-123158815

G

A

intronic

De novo

-

Trost2022 G

ADCY5

7-0324-003

chr3:
123139111-123139111

C

G

intronic

De novo

-

Trost2022 G

ADCY5

2-1442-003

chr3:
123021426-123021426

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ADCY5

5-5231-003

chr3:
123145009-123145009

A

G

intronic

De novo

-

Trost2022 G

ADCY5

12652.p1

chr3:
123166430-123166431

CT

C

exonic

Paternal

frameshift deletion

NM_183357

c.962delA

p.Q321fs

-

O’Roak2012a T

ADCY5

ASC_CA_60_A

chr3:
123049800-123049800

C

T

exonic

De novo

nonsynonymous SNV

NM_001199642
NM_183357

c.G532A
c.G1582A

p.E178K
p.E528K

37.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ADCY5

13502.p1

chr3:
123164764-123164764

A

G

intronic

De novo

-

Wilfert2021 G

ADCY5

10-0010-003

chr3:
123126599-123126599

T

C

intronic

De novo

-

Trost2022 G

ADCY5

3-0515-000

chr3:
123132973-123132973

T

C

intronic

De novo

-

Trost2022 G

ADCY5

MT_50.3

chr3:
123096093-123096093

C

T

intronic

De novo

-

Trost2022 G

ADCY5

14531.p1

chr3:
123167085-123167085

C

T

exonic

De novo

stopgain

NM_183357

c.G308A

p.W103X

49.0

-

Wilfert2021 G
Zhou2022 GE

ADCY5

14-613

chr3:
123097598-123097598

G

A

intronic

De novo

-

Trost2022 G

ADCY5

4-0082-003

chr3:
123164523-123164523

T

A

intronic

De novo

-

Trost2022 G

ADCY5

11653.p1

chr3:
123046605-123046605

G

A

exonic

De novo

nonsynonymous SNV

NM_001199642
NM_183357

c.C757T
c.C1807T

p.R253C
p.R603C

23.2

1.661E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ADCY5

200675257@1082034415

chr3:
123039606-123039606

G

A

exonic

De novo

nonsynonymous SNV

NM_001199642
NM_183357

c.C1051T
c.C2101T

p.P351S
p.P701S

9.894

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ADCY5

F2D5V

chr3:
123167215-123167222

CCCCCCCG

CCCCCCCCG

exonic

Unknown

frameshift insertion

NM_183357

c.178dupG

p.A60fs

-

7.932E-5

Stessman2017 T

ADCY5

1-0401-003

chr3:
123126599-123126599

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADCY5

2-1356-003

chr3:
123057776-123057776

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ADCY5

SP0110702

chr3:
123010107-123010107

A

C

exonic

De novo

nonsynonymous SNV

NM_001199642
NM_183357

c.T2130G
c.T3180G

p.D710E
p.D1060E

14.45

-

Fu2022 E

ADCY5

211-5211-3

chr3:
123044224-123044224

C

T

exonic

Maternal

nonsynonymous SNV

NM_001199642
NM_183357

c.G983A
c.G2033A

p.R328H
p.R678H

34.0

3.295E-5

Stessman2017 T

ADCY5

SP0123351

chr3:
123135010-123135010

T

G

intronic

De novo

-

Fu2022 E

ADCY5

SP0064043

Complex Event; expand row to view variants

De novo

nonsynonymous SNV, nonframeshift substitution

NM_001199642
NM_183357
NM_001199642
NM_183357

c.G2525A
c.G3575A
c.2525_2526AT
c.3575_3576AT

p.R842Q
p.R1192Q
N/A
N/A

37.0

8.386E-6

Antaki2022 GE
Fu2022 E
Zhou2022 GE

ADCY5

AU3849302

chr3:
123033387-123033387

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADCY5

Li2017:15076

chr3:
123019100-123019100

C

T

exonic

Unknown

nonsynonymous SNV

NM_001199642
NM_183357

c.G1717A
c.G2767A

p.V573M
p.V923M

29.2

8.392E-6

Li2017 T

ADCY5

SSC12086

chr3:
123167085-123167085

C

T

exonic

stopgain

NM_183357

c.G308A

p.W103X

49.0

-

Antaki2022 GE

ADCY5

13298.p1

chr3:
123142078-123142078

G

A

intronic

De novo

-

Turner2016 G

ADCY5

2-1275-003

chr3:
123163509-123163509

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADCY5

2-1275-003

chr3:
123161462-123161462

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADCY5

2-0704-003

chr3:
123114207-123114207

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ADCY5

2-1313-003

chr3:
123206215-123206215

C

T

intergenic

De novo

-

Yuen2017 G

ADCY5

SSC05372

chr3:
123049782-123049782

C

T

exonic

De novo

nonsynonymous SNV

NM_001199642
NM_183357

c.G550A
c.G1600A

p.A184T
p.A534T

37.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

ADCY5

AU1640302

chr3:
123207728-123207728

C

A

intergenic

De novo

-

Yuen2017 G

ADCY5

Lim2017:4900

chr3:
123046605-123046605

G

A

exonic

De novo

nonsynonymous SNV

NM_001199642
NM_183357

c.C757T
c.C1807T

p.R253C
p.R603C

23.2

1.661E-5

Lim2017 E

ADCY5

05HI3915A

chr3:
123044231-123044231

C

T

exonic

De novo

nonsynonymous SNV

NM_001199642
NM_183357

c.G976A
c.G2026A

p.A326T
p.A676T

14.93

-

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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