Variant Results

or

Results for "MSH2"

Variant Events: 16

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

MSH2

1-0207-005

chr2:
47697437-47697437

T

A

intronic

De novo

-

Trost2022 G

MSH2

1-0903-004

chr2:
47696605-47696605

T

G

intronic

De novo

-

Trost2022 G

MSH2

3-0111-000

chr2:
47692352-47692352

G

A

intronic

De novo

-

Yuen2016 G

MSH2

2-1605-003

chr2:
47741485-47741485

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

MSH2

1-1162-003

chr2:
47738551-47738551

A

G

intergenic

De novo

-

Trost2022 G

MSH2

327-04-101036

chr2:
47693810-47693819

CAAACAGATT

C

exonic

De novo

nonframeshift deletion

NM_000251
NM_001258281

c.1525_1533del
c.1327_1335del

p.509_511del
p.443_445del

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MSH2

AU186A

chr2:
47672716-47672716

T

A

exonic

De novo

nonsynonymous SNV

NM_000251
NM_001258281

c.T1306A
c.T1108A

p.F436I
p.F370I

22.9

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MSH2

G01-GEA-317-HI

chr2:
47693770-47693770

C

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

MSH2

AU4310301

chr2:
47658040-47658040

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSH2

1-0555-003

chr2:
47702828-47702828

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSH2

AU070007

chr2:
47643526-47643526

G

A

exonic

De novo

stopgain

NM_000251
NM_001258281

c.G1034A
c.G836A

p.W345X
p.W279X

38.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MSH2

SP0068802

chr2:
47705549-47705559

TTTTCATGAAC

T

exonic

frameshift deletion

NM_000251
NM_001258281

c.2350_2359del
c.2152_2161del

p.F784fs
p.F718fs

-

Zhou2022 GE

MSH2

4-0026-003

chr2:
47647258-47647258

C

T

intronic

De novo

-

Trost2022 G

MSH2

1-0354-006

chr2:
47682920-47682925

AACGAC

GATTTGTAAG

intronic

De novo

-

Trost2022 G

MSH2

4-0026-003

chr2:
47651878-47651878

G

T

intronic

De novo

-

Trost2022 G

MSH2

5F620

chr2:
47693956-47693956

G

A

intronic

De novo

-

Satterstrom2020 E
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
	More