SMARCB1 Mutation Database
No
Location
1. mutation
2. mutation
GLM
fam/unaff
unaff FM
Reference
nt
aa
exon/intron
nt
aa
exon/intron
1
Lung cell
deletion
1-9
deletion
1-9
no
Versteege, 1998
2
Kidney cell
141C>A
Y47X
2
deletion
1-9
no
Versteege, 1998
3
Kidney cell
950delG
fs
7
deletion
1-9
no
Versteege, 1998
4
Soft tissue cell
cd 31ins72bp
+ donor splice includes Stop
deletion
1-9
yes
Versteege, 1998 Sevenet, 1999, HMG
5
Kidney cell
deletion
1-9
deletion
1-9
no
Versteege, 1998
6
Abomen cell
deletion
1-9
deletion
1-9
no
Versteege, 1998
7
Retroperit. cell
deletion
1-9
deletion
1-9
no
Versteege, 1998
8
Kidney cell
772_784del13ins2
fs
6
deletion
1-9
no
Versteege, 1998
9
Abdomen cell
deletion
4-5
deletion
1-9
no
Versteege, 1998
10
Liver cell
deletion
1-9
deletion
1-9
no
Versteege, 1998
11
intraspinal cell
586_562dup17
fs
5
deletion
1-9
no
Versteege, 1998
12
Abdomen cell
108_126del19
fs
2
deletion
1-9
no
Versteege, 1998
13
CNS
778C>T
Q260X
6
Biegel, 1999
14
CNS
472C>T
R158X
4
Biegel, 1999
15
CNS
deletion
1
deletion
1
Biegel, 1999
16
CNS
deletion
1-9
1-9
Biegel, 1999
17
CNS
601C>T
R201X
5
Biegel, 1999
18
CNS
deletion
1
deletion
1
Biegel, 1999
19
CNS
1149delC
fs
9
Biegel, 1999
20
CNS
1149delC
fs
9
Biegel, 1999
21
CNS
deletion
1
deletion
1
Biegel, 1999
22
CNS
618G>A
W206X
5
Biegel, 1999
23
CNS
deletion
1
deletion
1
Biegel, 1999
24
CNS
deletion
1
deletion
1
Biegel, 1999
25
CNS
deletion
1-9
deletion
1-9
Biegel, 1999
26
CNS
deletion
1
deletion
1
Biegel, 1999
27
inguin. Mass
deletion
1-9
deletion
1-9
Biegel, 1999
28
Neck Mass
deletion
1
deletion
1
Biegel, 1999
29
Liver
deletion
1
deletion
1
Biegel, 1999
30
CNS
138insTACC
fs
2
Biegel, 1999
31
CNS
deletion
1-9
deletion
1-9
Biegel, 1999
32
CNS
deletion
1
deletion
1
Biegel, 1999
33
Kidney
deletion
1
deletion
1
Biegel, 1999
34
CNS, PBL
152G>A
W51X
2
Biegel, 1999
35
Kidney
727C>T
Q243X
6
Biegel, 1999
36
Abd. Nodule
deletion
1-9
deletion
1-9
Biegel, 1999
37
Kidney, PBL
797_1006del10
fs
7
Biegel, 1999
38
Kidney
797_1006del10
fs
7
Biegel, 1999
39
Kidney
727C>T
Q243X
6
Biegel, 1999
40
Kidney, PBL
617G>A
W206X
5
Biegel, 1999
41
Kidney, PBL
472C>T
R158X
4
Biegel, 1999
42-1
CNS ATRT
430delG
fs
4
yes
yes/no
Sevenet, 1999 AJHG
42-2
CNS CPC
430delG
fs
4
yes
yes/no
Sevenet, 1999 AJHG
43-1
MRT neck
472C>T
R158X
4
yes
yes/no
Sevenet, 1999 AJHG
44-1
CNS CPC
591delG
fs
5
yes
yes/no
Sevenet, 1999 AJHG
44-2
CNS ATRT
591delG
fs
5
yes
yes/no
Sevenet, 1999 AJHG
44-3
CNS ATRT
591delG
fs
5
yes
yes/no
Sevenet, 1999 AJHG
45
Kidney, cPNET
601C>T
R201X
5
yes
no/no
Sevenet, 1999 AJHG
46
Kidney
149_153del4dup2
fs
2
no
Sevenet, 1999 HMG
47
Kidney
352insC
fs
3
yes
Sevenet, 1999 HMG
48
Kidney
354delC
fs
3
Sevenet, 1999 HMG
49
Kidney
669_670del2
fs
6
Sevenet, 1999 HMG
50
Kidney
631A>T
K210X
6
no
Sevenet, 1999 HMG
51
Kidney
601C>T
R201X
5
Sevenet, 1999 HMG
52
Kidney
838G>T
E280X
7
Sevenet, 1999 HMG
53
Kidney
142C>T
P48S
2
no
Sevenet, 1999 HMG
54
Kidney
851C>T
S284L
7
Sevenet, 1999 HMG
55
Kidney, cell
601C>T
R201X
5
IVS5-2A>G
acceptor splice
IVS5
Sevenet, 1999 HMG
56
Kidney
472C>T
R158X
4
no
Sevenet, 1999 HMG
57
Kidney
deletion
6
deletion
6
Sevenet, 1999 HMG
58
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
59
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
60
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
61
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
62
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
63
Kidney
deletion
8
deletion
8
no
Sevenet, 1999 HMG
64
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
65
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
66
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
67
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
68
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
69
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
70
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
71
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
72
Kidney
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
73
Kidney
deletion
>/= 4
deletion
>/= 4
Sevenet, 1999 HMG
74
Abdomen
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
75
Abdomen
deletion
>/= 4
deletion
>/= 4
Sevenet, 1999 HMG
76
Liver
deletion
>/= 4
deletion
>/= 4
Sevenet, 1999 HMG
77
Bladder
deletion
6
deletion
6
Sevenet, 1999 HMG
78
dorsal
565_571dup7
fs
5
Sevenet, 1999 HMG
79
cervical
472C>T
R158X
4
yes
no/no
Sevenet, 1999 HMG
80
soft tissue
deletion
>/= 4
deletion
>/= 4
Sevenet, 1999 HMG
81
soft tissue
A>G intron 1
72bp insertion IVS1 with TGA
IVS1
Sevenet, 1999 HMG; Versteege, 1998 (?)
82
Face, cell
deletion
>/= 4
deletion
>/= 4
Sevenet, 1999 HMG
83
CNS, ATRT
118C>T
R40X
2
Sevenet, 1999 HMG
84
CNS, cPNET
617G>A
W206X
5
Sevenet, 1999 HMG
85
CNS, Mbl
472C>T
R158X
4
Sevenet, 1999 HMG
86
CNS, Mbl
141C>A
Y47X
2
Sevenet, 1999 HMG
87
CNS, Mbl
379A>G
R127G
Sevenet, 1999 HMG
88
CNS, Mbl
545delA
fs
5
Sevenet, 1999 HMG
89
CNS, Mbl
153G>A
W51X
2
Sevenet, 1999 HMG
90
CNS, CPC
IVS2-1G>C
acceptor splice
IVS2
Sevenet, 1999 HMG
91
CNS, CPC
601C>T
R201X
5
Sevenet, 1999 HMG
92
CNS CPP
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
93
CNS, Gliobl.
deletion
>/= 4
deletion
>/= 4
no
Sevenet, 1999 HMG
94
RMS cell
543_544delTC
fs
5
DeChistofaro, 1999
95
MRT cell
deletion
1-9
deletion
1-9
DeChistofaro, 1999
96
MRT cell
deletion
1-9
deletion
1-9
DeChistofaro, 1999
97
MRT cell
118C>T
R40X
2
DeChistofaro, 1999
98
MRTcell
deletion
1-5
deletion
1-5
DeChistofaro, 1999
99
MRT cell
646G>T
E216X
6
DeChistofaro, 1999
100
RMS
274delA
fs
3
778C>T
Q260X
6
poss
DeChistofaro, 1999
101
RMS
deletion
1-4 and/or 5
DeChistofaro, 1999
102-1
unaffected
IVS7+1G>A
donor splice
IVS7
yes
yes/yes
Taylor, 2000
102-2
CNS
IVS7+1G>A
donor splice
IVS7
yes
yes/yes
Taylor, 2000
102-3
CNS
IVS7+1G>A
donor splice
IVS7
yes
yes/yes
Taylor, 2000
103
Kidney
Codon 91delT
fs
3
778C>T
Q260X
yes
no
Savla, 2000
103
CNS
Codon 91delT
fs
3
del(22)
yes
no
Savla, 2000
104
Kidney
592C>T
Q198X
5
yes
no
Savla, 2000
105
CNS
592C>T
Q198X
5
del(22)
yes
no
Savla, 2000
106
Kidney
141C>A
Y47X
2
LOH
no
no
Savla, 2000
107
CNS, CPC
deletion
del(22)
Wyatt-Ashmead, 2001
108
CNS, CPC
deletion
del(22)
Wyatt-Ashmead, 2001
109
CNS, CPC
deletion
del(22)
Wyatt-Ashmead, 2001
110
CNS, CPC
deletion
del(22)(q12)
Wyatt-Ashmead, 2001
111-1
CNS, Pleura
472C>T
R158X
4
LOH
yes
yes/no
Lee, 2002
111-2
Kidney
472C>T
R158X
4
LOH
yes
yes/no
Lee, 2002
112-1
CNS, MBL
deletion
7
7
yes
Fernandez, 2002
112-2
MRT diss
yes
Fernandez, 2002
113
ATRT, Kidney
157C>T
R53X
2
LOH
yes
Fujisawa, 2003
114
Kidney, CNS
deletion
deletion
yes
Kusafuka, 2004
115-1
ATRT
376insGCCA
fs
4
yes
yes/yes
mother
Janson, 2005
115-2
ATRT
376insGCCA
fs
4
yes
yes/yes
mother
Janson, 2005
116-1
ATRT
IVS4+1G>A
donor splice
IVS4
LOH
yes
yes/yes
father 1
Ammerlaan, 2008
116-2
ATRT
IVS4+1G>A
donor splice
IVS4
LOH
yes
yes/yes
father 1
Ammerlaan, 2008
116-3
ATRT
IVS4+1G>A
donor splice
IVS4
LOH
yes
yes/yes
father 2
Ammerlaan, 2008
117-1
ATRT
dup2632bp
6
del(22)
Swensen, 2009
117-2
ATRT
dup2632bp
6
578_585dup8
Swensen, 2009
118
ATRT
del206-231
2
Koitabashi, 2009
UPN 1
ATRT, cardiac
601C>T
R201X
5
yes
Sevenet, 1999 HMG
UPN 2
ATRT, RTK
deletion
1-9
deletion
1-9
yes
UPN 3
ATRT, M2
dup796-838,838insT
7
deletion
1-9
yes
UPN 4
ATRT, M1
deletion
1-9
668delTG
6
yes
Jackson, 2007
UPN 5
ATRT, M2
IVS4-2A>G
donor splice
IVS4
deletion
1-9
yes
UPN 6
ATRT, M0
170delTG
2
yes
UPN 7
ATRT, MRT (thoracic)
deletion
1-9
deletion
1-9
yes
UPN 8
ATRT, M3
420insC
3
deletion
1-9
yes
UPN 9
ATRT, M2
316A>T
L106X
3
yes
UPN 10
ATRT, M0,RTK, pulmonal
del711-713CGC ins GATG
6
yes
UPN 11
ATRT
1148delC
9
(no)
Biegel, 2002
UPN 12
ATRT (it)
1148delC
9
deletion
1-9
(no)
Biegel, 2002
UPN 13
ATRT (KHBW)
357>A
Y119X
3
LOH
(no)
UPN 14
ATRT (M3, it)
deletion
deletion
no
UPN 15
ATRT (st)
deletion
deletion
1-9
NA
UPN 16
ATRT (it)
deletion
deletion
1-9
no
UPN 17
ATRT
deletion
deletion
1-9
(no)
UPN 18
ATRT (st)
deletion
deletion
1-9
(no)
UPN 19
ATRT (frontal)
deletion
deletion
1-9
(no)
UPN 20
ATRT (st)
deletion
deletion
1-9
(no)
UPN 21
ATRT (it)
deletion
deletion
1-9
NA
UPN 22
RTK, r
141C>A
Y47X
2
LOH (UPD)
no
Sevenet, 1999 HMG
UPN 23
ATRT, RTK
618delG
5
LOH
NA
Biegel, 2002
UPN 24
RTK, pulmonal
950delG
7
LOH (UPD)
(no)
Sevenet, 1999 HMG
UPN 25
MRT (cervical, intracranial extension)
deletion
partial deletion
no
UPN 26
MRT (re orbital)
deletion
deletion
1-9
no
UPN 27
MRT, abdominal
deletion
deletion
no
UPN 28
MRT, hepatic
deletion
deletion
1-9
no
UPN 29
ATRT
tu:PCR wt
(no)
UPN 30
ATRT (st)
tu:PCR wt/ FISH 3-4 copies
(no)
UPN 31
ATRT
tu:PCR wt/ FSIH no signals
(no)
UPN 32
ATRT
tu:PCR wt/ FISH nl
(no)
UPN 33
ATRT
tu:NA
(no)
UPN 34
ATRT
tu:NA
(no)
UPN 35
ATRT
tu:NA
(no)
UPN 36
ATRT (frontal)
tu:NA
(no)
UPN 37
ATRT (it)
tu:NA
(no)
UPN 38
ATRT (it)
tu:PCR wt
(no)
UPN 39
ATRT (parietal)
tu:NA
(no)
UPN 40
ATRT (st, pinealis, thal, paraventr)
tu:PCR wt/ FSIH nl
no
UPN 41
ATRT (st, re basal ggl)
tu:PCR wt/ FSIH nl
(no)
UPN 42
ATRT (st)
tu:PCR wt/ FSIH nl
(no)
UPN 43
ATRT, (temporoparietal)
tu:PCR wt/ FSIH no signals
NA
UPN 44
ATRT (M2)
tu:NA
(no)
UPN 45
ATRT, M2 (re frontal, 3.V, perisellar)
tu:PCR wt
(no)
UPN 46
ATRT, M3
tu:NA
(no)
UPN 47
MRT (cervical, pulmonal)
tu:PCR wt/ FISH no signals
no
UPN 48
RTK
tu:FISH nl
(no)
UPN 49
RTK, ATRT
tu:FISH nl
no
UPN 50
RTK (pulmonal,hepatic mets)
tu:FISH nl
no