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Results for "SMARCC2"

Variant Events: 53

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
SMARCC2     1-0232-004chr12:
56565311-56565311
TAintronicDe novo--Trost2022 G
Yuen2017 G
SMARCC2     09C82996chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Stessman2017 T
SMARCC2     mAGRE2949chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Cirnigliaro2023 G
SMARCC2     mAGRE2948chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Cirnigliaro2023 G
SMARCC2     200675470@1082034721chr12:
56566368-56566368
CAsplicingDe novosplicing18.68-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SMARCC2     ACGC_M04463chr12:
56572592-56572592
ATsplicingUnknownsplicing23.0-Wang2020 T
SMARCC2     AU0146301chr12:
56594411-56594411
AGintergenicDe novo--Yuen2017 G
SMARCC2     AU043804chr12:
56566053-56566053
AGintronicDe novo--Trost2022 G
Yuen2017 G
SMARCC2     iHART2948chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Ruzzo2019 G
SMARCC2     SF0108725.p1chr12:
56575376-56575377
GTGexonicframeshift deletionNM_001130420
NM_003075
NM_139067
c.845delA
c.845delA
c.845delA
p.N282fs
p.N282fs
p.N282fs
--Wang2020 T
SMARCC2     1255JS0019chr12:
56566368-56566368
CAsplicingDe novo, Unknownsplicing18.68-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SMARCC2     iHART2949chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Ruzzo2019 G
SMARCC2     SF0012327.p1chr12:
56559111-56559112
CACexonicframeshift deletionNM_003075
NM_001130420
NM_139067
c.3129delT
c.3222delT
c.3222delT
p.P1043fs
p.P1074fs
p.P1074fs
-4.776E-5Wang2020 T
SMARCC2     1-0352-005chr12:
56590622-56590622
CTintergenicDe novo--Yuen2017 G
SMARCC2     SP0083063chr12:
56581084-56581084
GGTATAexonicframeshift insertionNM_001130420
NM_003075
NM_139067
c.117_118insTATA
c.117_118insTATA
c.117_118insTATA
p.Q40fs
p.Q40fs
p.Q40fs
--Antaki2022 GE
Zhou2022 GE
SMARCC2     SP0012327chr12:
56559111-56559112
CACexonicDe novoframeshift deletionNM_003075
NM_001130420
NM_139067
c.3129delT
c.3222delT
c.3222delT
p.P1043fs
p.P1074fs
p.P1074fs
-4.776E-5Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SMARCC2     SF0041340.p1chr12:
56578705-56578705
GAexonicstopgainNM_001130420
NM_003075
NM_139067
c.C415T
c.C415T
c.C415T
p.R139X
p.R139X
p.R139X
35.0-Wang2020 T
SMARCC2     SP0041340chr12:
56578705-56578705
GAexonicDe novostopgainNM_001130420
NM_003075
NM_139067
c.C415T
c.C415T
c.C415T
p.R139X
p.R139X
p.R139X
35.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SMARCC2     SP0108725chr12:
56575376-56575377
GTGexonicDe novoframeshift deletionNM_001130420
NM_003075
NM_139067
c.845delA
c.845delA
c.845delA
p.N282fs
p.N282fs
p.N282fs
--Antaki2022 GE
Fu2022 E
Zhou2022 GE
SMARCC2     12836.p1chr12:
56558283-56558283
CGexonicDe novosynonymous SNVNM_003075c.G3372Cp.P1124P--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
SMARCC2     ACGC_HEN0004.p1chr12:
56565666-56565666
CTexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067
c.G1889A
c.G1982A
c.G1982A
p.R630H
p.R661H
p.R661H
27.0-Wang2020 T
SMARCC2     ACGC_HEN442.p1chr12:
56566489-56566489
CTsplicingUnknownsplicing19.74-Wang2020 T
SMARCC2     AGRE_AU1188303chr12:
56566407-56566407
GAexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067
c.C1732T
c.C1825T
c.C1825T
p.R578C
p.R609C
p.R609C
18.191.647E-5Wang2020 T
SMARCC2     5-5020-003chr12:
56558412-56558412
CTexonicDe novosynonymous SNVNM_003075c.G3243Ap.L1081L--Trost2022 G
Zhou2022 GE
SMARCC2     1-0352-003chr12:
56590622-56590622
CTintergenicDe novo--Yuen2016 G
SMARCC2     AGRE_AU2554301chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Wang2020 T
SMARCC2     Lo2022:14chr12:
56563987-56563987
TAexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067
c.A2260T
c.A2353T
c.A2353T
p.S754C
p.S785C
p.S785C
13.262.0E-4Lo2022 T
SMARCC2     AGRE_09C82996chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Wang2020 T
SMARCC2     Lo2022:13chr12:
56563662-56563662
CTexonicMaternalnonsynonymous SNVNM_003075
NM_001130420
NM_139067
c.G2353A
c.G2446A
c.G2446A
p.E785K
p.E816K
p.E816K
26.5-Lo2022 T
SMARCC2     SP0089094chr12:
56567593-56567593
GAexonicstopgainNM_001130420
NM_003075
NM_139067
c.C1537T
c.C1537T
c.C1537T
p.Q513X
p.Q513X
p.Q513X
37.0-Zhou2022 GE
SMARCC2     Lo2022:15chr12:
56578708-56578708
AGexonicUnknownnonsynonymous SNVNM_001130420
NM_003075
NM_139067
c.T412C
c.T412C
c.T412C
p.S138P
p.S138P
p.S138P
17.67-Lo2022 T
SMARCC2     M04463chr12:
56572592-56572592
ATsplicingUnknownsplicing23.0-Guo2018 T
Wang2016 T
SMARCC2     Lo2022:12chr12:
56558443-56558443
GAexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067
c.C3212T
c.C3305T
c.C3305T
p.P1071L
p.P1102L
p.P1102L
17.26-Lo2022 T
SMARCC2     SP0216984chr12:
56565211-56565214
ACTCAexonicDe novononframeshift deletionNM_003075
NM_001130420
NM_139067
c.2095_2097del
c.2188_2190del
c.2188_2190del
p.699_699del
p.730_730del
p.730_730del
--Trost2022 G
Zhou2022 GE
SMARCC2     SP0037614chr12:
56581129-56581129
ACintronicDe novo--Fu2022 E
SMARCC2     SP0219676chr12:
56559319-56559319
TTGexonicframeshift insertionNM_003075
NM_001130420
NM_139067
c.2921dupC
c.3014dupC
c.3014dupC
p.P974fs
p.P1005fs
p.P1005fs
--Zhou2022 GE
SMARCC2     SP0052416chr12:
56567459-56567459
CAintronicDe novo--Trost2022 G
SMARCC2     SP0139659chr12:
56567471-56567471
TAintronicDe novo--Trost2022 G
SMARCC2     SP0052416chr12:
56567452-56567452
GCintronicDe novo--Trost2022 G
SMARCC2     09C90312chr12:
56566368-56566368
CAsplicingDe novosplicing18.68-Neale2012 E
O’Roak2014 T
Willsey2013 E
SMARCC2     4-0009-003chr12:
56583699-56583699
ACupstreamDe novo--Trost2022 G
SMARCC2     Greenwood_Cms23662achr12:
56567593-56567593
GAexonicUnknownstopgainNM_001130420
NM_003075
NM_139067
c.C1537T
c.C1537T
c.C1537T
p.Q513X
p.Q513X
p.Q513X
37.0-Wang2020 T
SMARCC2     3-0607-001chr12:
56570812-56570812
TCintronicDe novo--Trost2022 G
SMARCC2     Leuven_381120chr12:
56559111-56559112
CACexonicUnknownframeshift deletionNM_003075
NM_001130420
NM_139067
c.3129delT
c.3222delT
c.3222delT
p.P1043fs
p.P1074fs
p.P1074fs
-4.776E-5Wang2020 T
SMARCC2     2-1288-003chr12:
56583325-56583347
CCCGCCGCCTCCCGCCGCCGCGGCUTR5De novo--Trost2022 G
SMARCC2     Greenwood_Cms23871chr12:
56566264-56566264
GAexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067
c.C1781T
c.C1874T
c.C1874T
p.A594V
p.A625V
p.A625V
22.0-Wang2020 T
SMARCC2     SP0191407chr12:
56567477-56567477
TAintronicDe novo--Trost2022 G
SMARCC2     1-0099-003chr12:
56567575-56567575
GAexonicDe novostopgainNM_001130420
NM_003075
NM_139067
c.C1555T
c.C1555T
c.C1555T
p.R519X
p.R519X
p.R519X
38.0-Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE
SMARCC2     1-1129-003chr12:
56570696-56570696
CGintronicDe novo--Trost2022 G
SMARCC2     381120chr12:
56559112-56559113
AGGexonicInheritedframeshift deletionNM_003075
NM_001130420
NM_139067
c.3129delT
c.3222delT
c.3222delT
p.P1043fs
p.P1074fs
p.P1074fs
-4.776E-5Stessman2017 T
SMARCC2     AU2554301chr12:
56575360-56575360
GAexonicPaternalstopgainNM_001130420
NM_003075
NM_139067
c.C862T
c.C862T
c.C862T
p.R288X
p.R288X
p.R288X
34.0-Stessman2017 T
SMARCC2     SSC06173chr12:
56558283-56558283
CGexonicDe novosynonymous SNVNM_003075c.G3372Cp.P1124P--Fu2022 E
Trost2022 G
SMARCC2     200675470_1082034721chr12:
56566368-56566368
CAsplicingDe novosplicing18.68-Fu2022 E
Source Variant Information

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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 notesView
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