Variant Results

or

Results for "BRSK2"

Variant Events: 35

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

BRSK2

AU2075301

chr11:
1473817-1473817

G

A

intronic

De novo

-

Yuen2017 G

BRSK2

11029.p1

chr11:
1466709-1466709

G

A

intronic

De novo

-

Krumm2015 E

BRSK2

AU3808305

chr11:
1470836-1470836

C

T

intronic

De novo

-

Yuen2017 G

BRSK2

13415.p1

chr11:
1466811-1466814

GAGA

G

exonic

De novo

nonframeshift deletion

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.989_991del
c.989_991del
c.1127_1129del
c.809_811del
c.989_991del

p.330_331del
p.330_331del
p.376_377del
p.270_271del
p.330_331del

-

Dong2014 E
Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

BRSK2

11606-1

chr11:
1466666-1466666

C

CT

exonic

De novo

frameshift insertion

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.956dupT
c.956dupT
c.1094dupT
c.776dupT
c.956dupT

p.L319fs
p.L319fs
p.L365fs
p.L259fs
p.L319fs

-

Fu2022 E

BRSK2

14462.p1

chr11:
1466693-1466693

G

A

intronic

De novo

-

Satterstrom2020 E

BRSK2

2-1741-003

chr11:
1372904-1372904

G

C

intergenic

De novo

-

Yuen2017 G

BRSK2

2-1335-004

chr11:
1387051-1387054

TGAA

T

intergenic

De novo

-

Yuen2017 G

BRSK2

7-0249-004

chr11:
1346229-1346229

G

C

intergenic

De novo

-

Yuen2017 G

BRSK2

346-09-111764

chr11:
1464633-1464633

G

C

exonic

De novo

synonymous SNV

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.G633C
c.G633C
c.G771C
c.G453C
c.G633C

p.V211V
p.V211V
p.V257V
p.V151V
p.V211V

-

Fu2022 E
Satterstrom2020 E

BRSK2

SP0123492

chr11:
1477639-1477639

C

CG

exonic

De novo

frameshift insertion

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.1731dupG
c.1731dupG
c.1869dupG
c.1551dupG
c.1731dupG

p.T577fs
p.T577fs
p.T623fs
p.T517fs
p.T577fs

-

Antaki2022 GE
Fu2022 E

BRSK2

08C79336

chr11:
1471005-1471005

G

C

splicing

De novo

splicing

12.46

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E

BRSK2

216287

chr11:
1463794-1463794

C

T

exonic

nonsynonymous SNV

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.C488T
c.C488T
c.C626T
c.C308T
c.C488T

p.A163V
p.A163V
p.A209V
p.A103V
p.A163V

27.7

-

Antaki2022 GE

BRSK2

5-0055-003

chr11:
1479315-1479315

G

A

intronic

De novo

-

Yuen2017 G

BRSK2

Mahjani2021:116

chr11:
1471918-1471918

G

GC

exonic

frameshift insertion

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.1390dupC
c.1390dupC
c.1528dupC
c.1210dupC
c.1390dupC

p.T463fs
p.T463fs
p.T509fs
p.T403fs
p.T463fs

-

Mahjani2021 E

BRSK2

SSC00428

chr11:
1481761-1481762

TA

T

exonic

frameshift deletion

NM_001256627

c.2020delA

p.K674fs

-

Antaki2022 GE

BRSK2

SP0037695

chr11:
1472606-1472607

AC

A

exonic

De novo

frameshift deletion

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.1502delC
c.1502delC
c.1640delC
c.1322delC
c.1502delC

p.T501fs
p.T501fs
p.T547fs
p.T441fs
p.T501fs

-

Feliciano2019 E

BRSK2

SP0063187

chr11:
1459545-1459545

G

A

exonic

De novo

nonsynonymous SNV

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.G196A
c.G196A
c.G334A
c.G16A
c.G196A

p.E66K
p.E66K
p.E112K
p.E6K
p.E66K

19.86

-

Antaki2022 GE
Fu2022 E

BRSK2

00HI1403A

chr11:
1471096-1471096

G

A

intronic

De novo

-

2.618E-5

Satterstrom2020 E

BRSK2

SP0097018

chr11:
1459623-1459623

T

C

splicing

De novo

splicing

19.26

-

Fu2022 E

BRSK2

AU4435301

chr11:
1357423-1357423

G

A

intergenic

De novo

-

Yuen2017 G

BRSK2

5-0015-004

chr11:
1416566-1416566

C

A

intronic

De novo

-

Yuen2017 G

BRSK2

SP0042217

chr11:
1466523-1466523

G

A

splicing

De novo

splicing

12.1

-

Feliciano2019 E
Fu2022 E

BRSK2

Hiatt2019:7

chr11:
1471923-1471925

CGT

C

exonic

De novo

frameshift deletion

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.1395_1396del
c.1395_1396del
c.1533_1534del
c.1215_1216del
c.1395_1396del

p.P465fs
p.P465fs
p.P511fs
p.P405fs
p.P465fs

-

Hiatt2019 T

BRSK2

Hiatt2019:6

chr11:
1471059-1471071

GCCCCCGGGTGAG

G

exonic

De novo

frameshift deletion

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.1281_1287del
c.1281_1287del
c.1419_1425del
c.1101_1107del
c.1281_1287del

p.S427fs
p.S427fs
p.S473fs
p.S367fs
p.S427fs

-

Hiatt2019 T

BRSK2

2-1735-003

chr11:
1428130-1428136

CTGTGTG

CTG

intronic

De novo

-

Yuen2017 G

BRSK2

Hiatt2019:9

chr11:
1477839-1477839

C

T

exonic

De novo

nonsynonymous SNV

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.C1861T
c.C1861T
c.C1999T
c.C1681T
c.C1861T

p.R621C
p.R621C
p.R667C
p.R561C
p.R621C

17.43

-

Hiatt2019 T

BRSK2

Hiatt2019:8

chr11:
1472634-1472636

CAG

C

exonic

De novo

frameshift deletion

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.1530_1531del
c.1530_1531del
c.1668_1669del
c.1350_1351del
c.1530_1531del

p.P510fs
p.P510fs
p.P556fs
p.P450fs
p.P510fs

-

Hiatt2019 T

BRSK2

Hiatt2019:3

chr11:
1463837-1463837

G

A

splicing

De novo

splicing

13.66

-

Hiatt2019 T

BRSK2

AU4145303

chr11:
1456465-1456465

G

A

intronic

De novo

-

Yuen2017 G

BRSK2

Hiatt2019:2

chr11:
1462017-1462017

G

A

splicing

De novo

splicing

10.3

-

Hiatt2019 T

BRSK2

Hiatt2019:5

chr11:
1464815-1464815

C

T

exonic

De novo

stopgain

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.C730T
c.C730T
c.C868T
c.C550T
c.C730T

p.Q244X
p.Q244X
p.Q290X
p.Q184X
p.Q244X

38.0

-

Hiatt2019 T

BRSK2

Hiatt2019:4

chr11:
1464720-1464720

G

A

exonic

De novo

nonsynonymous SNV

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.G635A
c.G635A
c.G773A
c.G455A
c.G635A

p.G212E
p.G212E
p.G258E
p.G152E
p.G212E

22.6

-

Hiatt2019 T

BRSK2

11729.p1

chr11:
1480483-1480483

A

C

intronic

De novo

-

2.0E-4

Satterstrom2020 E

BRSK2

2-1373-003

chr11:
1439708-1439709

CA

C

intronic

De novo

-

Yuen2017 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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