Variant Results

or

Results for "BRIP1"

Variant Events: 27

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

BRIP1

7-0219-003

chr17:
59803778-59803778

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRIP1

1-0960-003

chr17:
59873973-59873973

G

A

intronic

De novo

-

Trost2022 G

BRIP1

1-1134-004

chr17:
59876947-59876947

C

T

intronic

De novo

-

Trost2022 G

BRIP1

1-1134-003

chr17:
59794168-59794168

G

T

intronic

De novo

-

Trost2022 G

BRIP1

REACH000233

chr17:
59805149-59805149

C

A

intronic

De novo

-

Trost2022 G

BRIP1

4-0062-003

chr17:
59765613-59765613

T

G

intronic

De novo

-

Trost2022 G

BRIP1

7-0011-003

chr17:
59775356-59775356

G

A

intronic

De novo

-

Trost2022 G

BRIP1

AU2310301

chr17:
59755893-59755893

T

C

downstream

De novo

-

Trost2022 G

BRIP1

1-0065-005

chr17:
59927366-59927366

A

ATAAATATTC

intronic

De novo

-

Yuen2017 G

BRIP1

5-0034-003

chr17:
59763828-59763828

A

G

intronic

De novo

-

Trost2022 G

BRIP1

AU056204

chr17:
59940617-59940617

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRIP1

SP0050469

chr17:
59886031-59886031

C

G

exonic

De novo

nonsynonymous SNV

NM_032043

c.G715C

p.G239R

9.513

-

Trost2022 G

BRIP1

7-0286-004A

chr17:
59919020-59919023

ATAT

A

intronic

De novo

-

Trost2022 G

BRIP1

5-0042-003

chr17:
59921668-59921668

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRIP1

C240203

chr17:
59763491-59763491

G

C

exonic

De novo

nonsynonymous SNV

NM_032043

c.C2611G

p.H871D

22.2

-

Fu2022 E

BRIP1

iHART2281

chr17:
59821941-59821941

T

TGG

exonic

Maternal

frameshift insertion

NM_032043

c.2108_2109insCC

p.K703fs

-

4.13E-5

Ruzzo2019 G

BRIP1

1-0065-004

chr17:
59927366-59927366

A

ATAAATATTC

intronic

De novo

-

Yuen2017 G

BRIP1

iHART2279

chr17:
59821941-59821941

T

TGG

exonic

Maternal

frameshift insertion

NM_032043

c.2108_2109insCC

p.K703fs

-

4.13E-5

Ruzzo2019 G

BRIP1

2-1359-004

chr17:
59885956-59885956

G

C

exonic

De novo

nonsynonymous SNV

NM_032043

c.C790G

p.R264G

15.67

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

BRIP1

1-0526-003

chr17:
59787251-59787251

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRIP1

5-5123-003

chr17:
59924516-59924516

C

A

exonic

De novo

nonsynonymous SNV

NM_032043

c.G573T

p.K191N

5.316

-

Trost2022 G
Zhou2022 GE

BRIP1

SP0100431

chr17:
59934541-59934541

C

T

exonic

De novo

nonsynonymous SNV

NM_032043

c.G257A

p.C86Y

16.83

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BRIP1

2-0223-004

chr17:
59787445-59787445

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRIP1

AU2792302

chr17:
59937229-59937229

C

A

exonic

Maternal

stopgain

NM_032043

c.G133T

p.E45X

37.0

8.242E-6

Cirnigliaro2023 G

BRIP1

mAGRE2281

chr17:
59821941-59821941

T

TGG

exonic

Maternal

frameshift insertion

NM_032043

c.2108_2109insCC

p.K703fs

-

4.13E-5

Cirnigliaro2023 G

BRIP1

mAGRE2279

chr17:
59821941-59821941

T

TGG

exonic

Maternal

frameshift insertion

NM_032043

c.2108_2109insCC

p.K703fs

-

4.13E-5

Cirnigliaro2023 G

BRIP1

AU4237304

chr17:
59895775-59895775

C

G

intronic

De novo

-

Trost2022 G
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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