Global Variome shared LOVD
SMARCB1 (SWI/SNF related, matrix associated, actin ...)
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Curator:
Ludwine Messiaen
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View all transcripts of gene SMARCB1
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View all variants in gene SMARCB1
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View all diseases associated with gene SMARCB1
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Unique variants in gene SMARCB1
The variants shown are described using the NM_003073.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.
Reported
: The number of times this variant has been reported in the database.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup
ClassClinical
: Classification of the variant based on the clinical consequences as published or submitted. NOTE: this classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). Classification should preferably be performed using standardised criteria; e.g. ACMG: 5 (dominant) (= disease associated, dominant inheritance), ACMG: 5 (recessive) (= disease associated, recessive inheritance), pathogenic (dominant), pathogenic (recessive), likely pathogenic (recessive) , VUS (= variant of unknown significance), likely benign (= likely not disease-associated), benign (= not disease-associated), non-disease phenotype, drug response, risk factor, associated with, etc. NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+, BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
155 entries on 2 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
ClassClinical
RNA change
Protein
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Owner
?/.
38
-
c.?
-
r.(?), r.?
p.?
g.?
-
Duplication of SMARCB1, not specified, Deletion of SMARCB1, not specified, codon 91delT, not specified,
7 more items
-
LARGE_000000
Refseq: not provided, Refseq reported:hg18, Refseq reported: AB017523, Refseq reported: Y17118-Y17126,
2 more items
PubMed: Kordes U 2014
,
PubMed: Wieser R 2005
,
PubMed: Beddow RA 2011
,
PubMed: Lafay-Cousin L 2009
,
18 more items
-
-
Unknown, De novo, Germline
-
-
-
-
-
Julia Lopez
+/.
2
_1_9_
c.(?_-2108969)_(*1_?)del
-
r.0
p.0
g.(?_22020388)_(24176368_?)del
-
del PPIL2_SMARCB1
-
SMARCB1_000035
-
-
-
-
Germline
-
-
-
-
-
Till Holsten
+/.
1
_1_9_
c.(?_-691475)_(*1_?)del
-
r.0
p.0
g.(?_23437882)_(24176368_?)del
-
del GNAZ_SMARCB1
-
SMARCB1_000034
-
-
-
-
Germline
-
-
-
-
-
Till Holsten
?/.
1
-
c.-4839G>T
VUS
r.(?)
p.(=)
g.24124518G>T
-
MMP11(NM_005940.3):c.1181G>T (p.(Gly394Val))
-
MMP11_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
?/.
2
1
c.(?_-207)_(93+1_94-1)del
-
r.spl?
p.?
g.(2412915_24129150)_(24129450_24133942)del
-
Deletion of exon 1, not specified
-
SMARCB1_000068
Refseq reported:hg18, Refseq: not provided
PubMed: Eaton KW 2011
,
PubMed: Smith MJ 2014
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
1_2i
c.(?_-207)_(232+1_233-1)del
-
r.?
p.?
g.(2412915_24129150)_(24134082_24135745)del
-
Deletion of exon 1-2, not specified
-
SMARCB1_000069
Refseq reported:hg18
PubMed: Eaton KW 2011
-
-
De novo
-
-
-
-
-
Julia Lopez
?/.
2
1_5i
c.(?_-207)_(628+1_629-1)del
-
r.?
p.?
g.(2412915_24129150)_(24145610_24158956)del
-
Deletion of exon 1-5, not specified, Deletion of exon 15, not specified
-
SMARCB1_000070
Refseq reported:hg18
PubMed: Eaton KW 2011
-
-
De novo
-
-
-
-
-
Julia Lopez
?/.
5
_1_9_
c.(?_-207)_(*338_?)del
-
r.(?)
p.?
g.(21451072_21976803)_(24676569_24701666)del, g.(23152039_23262944)_(24726599_24819702)del,
2 more items
-
Deletion of SMARCB1, (exon 1 to 9)
-
SMARCB1_000065
Deletion (Proximal:19,781,072-20,306,803 Distal:23,006,569-23,031,666) hg18,
3 more items
PubMed: Jackson EM 2007
-
-
Unknown, De novo
-
-
-
-
-
Julia Lopez
?/.
1
-
c.-22G>C
VUS
r.(?)
p.(=)
g.24129335G>C
-
SMARCB1(NM_003073.3):c.-22G>C
-
SMARCB1_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
+/.
1
_1_5i
c.(?_-1)_(628+1_629-1)del
-
r.0?
p.0?
g.(?_24129356)_(24145610_24158956)del
-
del Ex1-Ex5
-
SMARCB1_000028
-
-
-
-
Germline
-
-
-
-
-
Till Holsten
?/., +/.
11
_1_9_
c.(?_-1)_(*1_?)del
-
r.0
p.0
g.(?_24129356)_(24176368_?)del
-
delSMARCB1, deletion SMARCB1, del ex1-9
-
SMARCB1_000030
-
-
-
-
Germline
-
-
-
-
-
Till Holsten
?/.
1
1
c.20_43delinsT
-
r.(?)
p.(Ser7Ilefs*56)
g.24129376_24129399delinsT
-
Gonadal Mosaicism: c.20_43delinsT, not specified
-
SMARCB1_000071
Refseq reported:hg18
PubMed: Eaton KW 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/., +/.
2
1
c.30del
pathogenic
r.(?)
p.(Phe10Leufs*6)
g.24129386del
-
SMARCB1(NM_003073.3):c.30delC (p.F10Lfs*6)
-
SMARCB1_000037
VKGL data sharing initiative Nederland
PubMed: Rousseau G 2011
-
-
Unknown, CLASSIFICATION record
-
-
-
-
-
Julia Lopez
,
VKGL-NL
+?/.
1
-
c.31G>A
likely pathogenic
r.(?)
p.(Gly11Arg)
g.24129387G>A
-
-
-
SMARCB1_000153
-
PubMed: Han 2018
-
-
De novo
-
-
-
-
-
Joonhong Park
?/., +/.
4
1
c.34C>T
pathogenic
r.(?)
p.(Gln12*)
g.24129390C>T
-
SMARCB1(NM_003073.3):c.34C>T (p.Q12*)
-
SMARCB1_000003
Refseq reported: U04847.1, Refseq: not provided, VKGL data sharing initiative Nederland
PubMed: Hulsebos TJ 2007
,
PubMed: Smith MJ 2012
-
-
Germline, Unknown, CLASSIFICATION record
-
-
-
-
-
Julia Lopez
,
VKGL-NL
?/.
1
1
c.38delA
-
r.(?)
p.(Lys13Serfs*3)
g.24129394delA
-
-
-
SMARCB1_000072
Refseq: not provided
PubMed: Smith MJ 2014
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
1
c.40C>T
-
r.(?)
p.(Pro14Ser)
g.24129396C>T
-
-
-
SMARCB1_000073
Refseq: not provided
PubMed: Smith MJ 2014
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
7
1
c.41C>A
-
r.(?)
p.(Pro14His)
g.24129397C>A
-
-
-
SMARCB1_000074
Refseq reported:NC_000022.9, Refseq reported: AB017523, Refseq: not provided
PubMed: Hadfield KD 2008
,
PubMed: Boyd 2008
,
PubMed: Smith MJ 2012
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
1
c.46A>T
-
r.(?)
p.(Lys16*)
g.24129402A>T
-
-
-
SMARCB1_000075
Refseq reported:NC_000022.9
PubMed: Hadfield KD 2008
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
-
c.84C>G
ACMG: 3
r.(?)
p.Ile28Met
g.24129440C>G
-
-
-
SMARCB1_000152
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
?/.
3
1
c.86_91del
-
r.(?)
p.(Gly29_Ser30del)
g.24129442_24129447delGCTCCG, g.24129442_24129447del
-
-
-
SMARCB1_000076
Refseq reported:NC_000022.9, Refseq: not provided
PubMed: Hadfield KD 2008
,
PubMed: Smith MJ 2014
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
6
1
c.92A>T
-
r.(?)
p.(Glu31Val)
g.24129448A>T
-
-
-
SMARCB1_000077
Refseq: not provided
PubMed: Bacci C 2010
,
PubMed: Smith MJ 2012
,
PubMed: Rousseau G 2011
-
-
Germline, Unknown
-
-
-
-
-
Julia Lopez
?/.
2
1
c.93G>C
-
r.(?)
p.(Glu31Asp)
g.24129449G>C
-
-
-
SMARCB1_000078
Refseq: not provided, Refseq reported:hg18
PubMed: Bourdeaut F 2011
,
PubMed: Eaton KW 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
-/.
1
-
c.93+117_93+120dup
benign
r.(=)
p.(=)
g.24129566_24129569dup
-
SMARCB1(NM_003073.3):c.93+117_93+120dupGCGC
-
DERL3_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
-/.
1
-
c.93+118_93+119insTC
benign
r.(=)
p.(=)
g.24129567_24129568insTC
-
SMARCB1(NM_003073.3):c.93+118_93+119insTC
-
DERL3_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
-/.
1
-
c.93+119_93+120del
benign
r.(=)
p.(=)
g.24129568_24129569del
-
SMARCB1(NM_003073.3):c.93+119_93+120delGC
-
SMARCB1_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
+/.
1
1i
c.93+559A>G
-
r.93_94ins93+483_93+554
p.Val32fs
g.24130008A>G
g.23787821A>G
-
-
SMARCB1_000014
1 more item
Author submited
-
-
De novo
-
-
-
-
-
Julien Masliah-Planchon
?/.
1
1i_2i
c.(93+1_94-1)_(232+1_233-1)del
-
r.spl?
p.?
g.(2412945_24133942)_(24134082_24135745)del
-
Deletion of exon 2, not specified
-
SMARCB1_000079
Refseq: not provided
PubMed: Bourdeaut F 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
+/.
1
1i_9_
c.(93+1_94-1)_(*1_?)del
-
r.?
p.?
g.(24129450_24133942)_(24176368_?)del
-
del ex2_ex9
-
SMARCB1_000032
-
-
-
-
Germline
-
-
-
-
-
Till Holsten
?/.
1
2
c.98dupG
-
r.(?)
p.(Asn34Lysfs*37)
g.24133947dupG
-
-
-
SMARCB1_000080
-
SMARCB1 database
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
2
c.105C>G
-
r.(?)
p.(Tyr35*)
g.24133954C>G
-
-
-
SMARCB1_000081
Refseq: not provided
PubMed: Bourdeaut F 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
2
c.110delG
-
r.(?)
p.(Arg37Leufs*18)
g.24133959delG
-
-
-
SMARCB1_000082
Refseq: not provided
PubMed: Metts 2017
-
-
Unknown
-
-
-
-
-
Julia Lopez
+/.
1
-
c.110G>A
pathogenic
r.(?)
p.(Arg37His)
g.24133959G>A
-
SMARCB1(NM_003073.3):c.110G>A (p.R37H)
-
SMARCB1_000042
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
?/., +/.
9
2
c.118C>T
pathogenic
r.(?)
p.(Arg40*)
g.24133967C>T
g.23791780C>T
SMARCB1(NM_003073.3):c.118C>T (p.R40*)
-
SMARCB1_000021
Refseq: not provided, VKGL data sharing initiative Nederland
PubMed: Modena P 2013
,
PubMed: Bourdeaut F 2011
,
PubMed: Smith MJ 2014
-
-
Unknown, Germline, CLASSIFICATION record
-
-
-
-
-
Julia Lopez
,
Till Holsten
,
VKGL-NL
?/.
1
2
c.122dup
-
r.(?)
p.(Ser42Phefs*29)
g.24133971dup
-
-
-
SMARCB1_000083
Refseq: not provided
PubMed: Bourdeaut F 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
3
2
c.126_127insGCCA
-
r.(?)
p.(Leu43Alafs*29)
g.24133975_24133976insGCCA
-
-
-
SMARCB1_000084
Refseq: not provided
PubMed: Janson K 2006
-
-
Unknown, Germline
-
-
-
-
-
Julia Lopez
?/.
1
2
c.141C>A
-
r.(?)
p.(Tyr47*)
g.24133990C>A
-
-
-
SMARCB1_000085
Refseq reported:hg18
PubMed: Eaton KW 2011
-
-
De novo
-
-
-
-
-
Julia Lopez
?/., +/.
19
2
c.143C>T
pathogenic
r.(?)
p.(Pro48Leu)
g.24133992C>T
-
SMARCB1(NM_003073.3):c.143C>T (p.P48L)
-
SMARCB1_000043
Refseq: not provided, VKGL data sharing initiative Nederland, Refseq reported: U04847.1
PubMed: Christiaans I 2011
,
PubMed: van den Munckhof P 2012
-
-
Unknown, CLASSIFICATION record, Germline
-
-
-
-
-
Julia Lopez
,
VKGL-NL
?/.
1
2
c.144dup
-
r.(?)
p.(Ser49Leufs*22)
g.24133993dup
-
-
-
SMARCB1_000086
Refseq reported: AP000349-350
PubMed: Biegel JA 2002
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
2
2
c.152G>A
-
r.(?)
p.(Trp51*)
g.24134001G>A
-
-
-
SMARCB1_000087
Refseq reported:hg18, Refseq reported: AP000349-350
PubMed: Eaton KW 2011
,
PubMed: Biegel JA 2002
-
-
Unknown, De novo
-
-
-
-
-
Julia Lopez
+/.
1
-
c.153G>A
pathogenic
r.(?)
p.(Trp51*)
g.24134002G>A
-
-
-
SMARCB1_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
+/., ?/.
7
2
c.157C>T
-
r.(?)
p.(Arg53*)
g.24134006C>T
g.23791819C>T
C157T, not specified
-
SMARCB1_000019
Refseq: not provided
PubMed: Fujisawa H 2005
,
PubMed: Fujisawa H 2003
-
-
Germline, Unknown
-
-
-
-
-
Till Holsten
,
Julia Lopez
?/.
5
2
c.158G>T
-
r.(?)
p.(Arg53Leu)
g.24134007G>T
-
-
-
SMARCB1_000088
Refseq reported: AB017523
PubMed: Boyd 2008
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
2
2
c.170_171del
-
r.(?)
p.(Val57Glyfs*13)
g.24134019_24134020delTG
-
-
-
SMARCB1_000089
Refseq reported:hg18, Refseq reported: Y17118-Y17126
PubMed: Eaton KW 2011
,
PubMed: Kordes 2010
-
-
De novo, Unknown
-
-
-
-
-
Julia Lopez
?/.
1
2
c.197C>A
-
r.(?)
p.(Ser66*)
g.24134046C>A
-
-
-
SMARCB1_000092
Refseq reported: AP000349-350
PubMed: Biegel JA 2002
-
-
De novo
-
-
-
-
-
Julia Lopez
?/.
1
2
c.197C>T
-
r.(?)
p.(Ser66Leu)
g.24134046C>T
-
-
-
SMARCB1_000091
-
SMARCB1 database
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
2
c.203_216delinsTACC
-
r.(?)
p.(His68Leufs*14)
g.24134052_24134065delinsTACC
-
-
-
SMARCB1_000093
-
PubMed: Sestini R 2008
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
3
2
c.207_208dup
-
r.(?)
p.(Lys70Ilefs*16)
g.24134056_24134057dupTA
-
-
-
SMARCB1_000094
-
PubMed: Melean G 2012
-
-
Germline, Unknown
-
-
-
-
-
Julia Lopez
+/.
1
-
c.218_219del
pathogenic
r.(?)
p.(Lys73Thrfs*2)
g.24134067_24134068del
-
SMARCB1(NM_003073.3):c.218_219delAA (p.K73Tfs*2)
-
SMARCB1_000044
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
?/.
1
2i_3
c.233-249_348del
-
r.spl?
p.?
g.24135497_24135861del
-
-
-
SMARCB1_000095
-
EUHRAB
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/?
2
-
c.233-43A>T
-
r.(=)
p.(=)
g.24135703A>T
g.23793516A>T
-
-
SMARCB1_000010
-
-
-
-
Unknown
-
-
-
-
-
Gijs Santen
?/.
3
2i_3
c.233-2_237del
-
r.spl?
p.?
g.24135744_24135750delagATCAC
-
-
-
SMARCB1_000096
Refseq reported:NC_000022.9
PubMed: Hadfield KD 2008
-
-
Unknown, Germline
-
-
-
-
-
Julia Lopez
?/.
2
2i
c.233-1G>A
-
r.spl?
p.?
g.24135745G>A
-
-
-
SMARCB1_000097
-
PubMed: Melean G 2012
-
-
Germline
-
-
-
-
-
Julia Lopez
?/.
4
3
c.245_246insAT
-
r.(?)
p.(Thr83*)
g.24135758_24135759insAT
-
-
-
SMARCB1_000098
Refseq: not provided
PubMed: Carter JM 2012
-
-
Germline, De novo, Unknown
-
-
-
-
-
Julia Lopez
?/.
1
3
c.316A>T
-
r.(?)
p.(Lys106*)
g.24135829A>T
-
-
-
SMARCB1_000099
Refseq reported: Y17118-Y17126
PubMed: Kordes 2010
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
3
c.321C>G
-
r.(?)
p.(Tyr107*)
g.24135834C>G
-
-
-
SMARCB1_000100
Refseq: not provided
PubMed: Smith MJ 2014
-
-
Unknown
-
-
-
-
-
Julia Lopez
+?/.
1
3
c.351dup
-
r.(?)
p.(Thr118Hisfs*52)
g.24135864dup
g.23793677dup
351dupC
-
SMARCB1_000101
-
PubMed: Holsten 2018
; SMARCB1 database
-
-
Germline/De novo (untested)
-
-
-
-
-
Julia Lopez
?/.
4
3i
c.362+1G>A
-
r.spl?
p.?
g.24135876G>A
-
-
-
SMARCB1_000102
Refseq reported: U04847.1, Refseq reported: AB017523
PubMed: Hulsebos TJ 2014
,
PubMed: Boyd 2008
-
-
Unknown, Germline
-
-
-
-
-
Julia Lopez
-/.
1
-
c.362+7C>T
benign
r.(=)
p.(=)
g.24135882C>T
-
SMARCB1(NM_003073.3):c.362+7C>T
-
SMARCB1_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
+/.
1
-
c.363-9T>G
pathogenic
r.(=)
p.(=)
g.24143122T>G
-
SMARCB1(NM_003073.3):c.363-9T>G
-
SMARCB1_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
+/.
1
-
c.363-2A>G
pathogenic
r.spl?
p.?
g.24143129A>G
-
SMARCB1(NM_003073.3):c.363-2A>G
-
SMARCB1_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
+/., ?/.
2
3i_5i
c.(362+1_363-1)_(628+1_629-1)del
-
r.?, r.spl?
p.?
g.(24135876_24143130)_(24145610_24158956)del, g.(2413587_24143130)_(24145610_24158956)del
-
del Ex4_Ex5, Deletion of exon 4-5, not specified
-
SMARCB1_000033
Refseq: not provided
PubMed: Bourdeaut F 2011
-
-
Germline, Unknown
-
-
-
-
-
Till Holsten
,
Julia Lopez
?/.
1
3i_5i
c.(362+1_363-1)_(628+1_629-1)del
-
r.spl?
p.?
g.(2413587_24143130)_(24145610_24158956)del
-
Deletion exon 45, not specified
-
SMARCB1_000033
Refseq reported:hg18
PubMed: Eaton KW 2011
-
-
De novo
-
-
-
-
-
Julia Lopez
?/.
2
3i_5i
c.(362+1_363-1)_(628+1_629-1)dup
-
r.spl?
p.?
g.(2413587_24143130)_(24145610_24158956)dup
-
Dup Exon 4-5, not specified
-
SMARCB1_000103
Refseq reported: AB017523
PubMed: Bruggers CS 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
3i_6i
c.(362+1_363-1)_(795+1_796-1)del
-
r.spl?
p.?
g.(2413587_24143130)_(24159124_24167411)del
-
Deletion of exon 46, not specified
-
SMARCB1_000104
Refseq reported:hg18
PubMed: Eaton KW 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
2
4
c.364G>T
-
r.(?)
p.(Glu122*)
g.24143132G>T
-
-
-
SMARCB1_000105
Refseq reported: AB017523
PubMed: Boyd 2008
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
4
c.387C>T
-
r.(=)
p.(=)
g.24143155C>T
-
-
-
SMARCB1_000106
Refseq reported: AP000349-350
PubMed: Biegel JA 2002
-
-
De novo
-
-
-
-
-
Julia Lopez
?/.
2
4
c.392G>A
-
r.(?)
p.(Trp131*)
g.24143160G>A
-
-
-
SMARCB1_000107
Refseq: not provided
PubMed: Wu J 2015
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
4
c.421dup
-
r.(?)
p.(His141Profs*29)
g.24143189dupC
-
-
-
SMARCB1_000108
Refseq reported: Y17118-Y17126
PubMed: Kordes 2010
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
2
4
c.430del
-
r.(?)
p.(Ala144Profs*32)
g.24143198delG
-
-
-
SMARCB1_000109
Refseq reported: AB017523, Refseq: not provided
PubMed: Sévenet N 1999
-
-
Unknown
-
-
-
-
-
Julia Lopez
-?/.
1
-
c.438A>G
likely benign
r.(?)
p.(=)
g.24143206A>G
-
SMARCB1(NM_003073.3):c.438A>G (p.P146=)
-
SMARCB1_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
?/.
1
4
c.442_449del
-
r.(?)
p.(Ser148Hisfs*19)
g.24143210_24143217del
-
-
-
SMARCB1_000110
Refseq: not provided
PubMed: Bourdeaut F 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/., +/.
14
4
c.472C>T
pathogenic
r.(?)
p.(Arg158*)
g.24143240C>T
g.23801053C>T
SMARCB1(NM_003073.3):c.472C>T (p.R158*)
-
SMARCB1_000015
Refseq: not provided, Refseq reported: AP000349-350, Refseq reported:hg18,
2 more items
PubMed: Lee HY 2002
,
PubMed: Biegel JA 1999
,
PubMed: Eaton KW 2011
,
PubMed: Sévenet N 1999
,
1 more item
-
-
De novo, Germline, Unknown, CLASSIFICATION record
-
-
-
-
-
Julia Lopez
,
Till Holsten
,
VKGL-NL
?/.
1
4
c.479del
-
r.(?)
p.(Lys160Argfs*16)
g.24143247delA
-
-
-
SMARCB1_000111
-
SMARCB1 database
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
4
c.496del
-
r.(?)
p.(Leu166Phefs*10)
g.24143264del
-
496del, not specified
-
SMARCB1_000112
Refseq: not provided
PubMed: Fujisawa H 2005
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/., +/.
9
4i
c.500+1G>A
pathogenic
r.spl?
p.?
g.24143269G>A
-
-
-
SMARCB1_000113
Refseq reported: U04847, Refseq reported: AB017523, VKGL data sharing initiative Nederland
PubMed: Ammerlaan AC 2008
,
PubMed: Boyd 2008
-
-
Germline, Unknown, CLASSIFICATION record
-
-
-
-
-
Julia Lopez
,
VKGL-NL
-?/.
1
-
c.500+7A>G
likely benign
r.(=)
p.(=)
g.24143275A>G
-
SMARCB1(NM_003073.3):c.500+7A>G
-
SMARCB1_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
-?/.
1
-
c.500+24C>G
likely benign
r.(=)
p.(=)
g.24143292C>G
-
SMARCB1(NM_003073.3):c.500+24C>G
-
SMARCB1_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
?/.
1
4i
c.501-2A>G
-
r.spl?
p.?
g.24145480A>G
-
-
-
SMARCB1_000114
Refseq reported: Y17118-Y17126
PubMed: Kordes 2010
-
-
Unknown
-
-
-
-
-
Julia Lopez
+/.
1
-
c.550G>T
pathogenic
r.(?)
p.(Glu184*)
g.24145531G>T
-
-
-
DERL3_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
?/.
1
5
c.564del
-
r.(?)
p.(Ile189Serfs*20)
g.24145545del
-
-
-
SMARCB1_000115
Refseq: not provided
PubMed: Bourdeaut F 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
5
c.578_585dup
-
r.(?)
p.(Asp196Trpfs*16)
g.24145559_24145566dup
-
-
-
SMARCB1_000067
-
PubMed: Swensen JJ 2009
-
-
Somatic
-
-
-
-
-
Julia Lopez
-?/.
1
-
c.582G>A
likely benign
r.(?)
p.(=)
g.24145563G>A
-
SMARCB1(NM_003073.3):c.582G>A (p.E194=)
-
SMARCB1_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL
?/.
3
5
c.591del
-
r.(?)
p.(Gln198Argfs*11)
g.24145572del, g.24145572delG
-
-
-
SMARCB1_000064
Refseq reported: AB017523, Refseq: not provided
PubMed: Sévenet N 1999
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
2
5
c.592C>T
-
r.(?)
p.(Gln198*)
g.24145573C>T
-
-
-
SMARCB1_000116
Refseq reported:hg18, Refseq reported: AP000349-350
PubMed: Eaton KW 2011
,
PubMed: Biegel JA 2002
-
-
Germline, De novo
-
-
-
-
-
Julia Lopez
?/.
6
5
c.601C>T
-
r.(?)
p.(Arg201*)
g.24145582C>T
-
-
-
SMARCB1_000063
Refseq reported:hg18, Refseq reported: Y17118-Y17126, Refseq: not provided
PubMed: Eaton KW 2011
,
PubMed: Kordes 2010
,
PubMed: Sévenet N 1999
,
PubMed: Sévenet N 1999
,
2 more items
-
-
De novo, Unknown
-
-
-
-
-
Julia Lopez
?/.
1
5
c.617G>A
-
r.(?)
p.(Trp206*)
g.24145598G>A
-
-
-
SMARCB1_000117
Refseq reported: AP000349-350
PubMed: Biegel JA 2002
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
3
5i
c.628+1G>A
-
r.spl?
p.?
g.24145610G>A
-
-
-
SMARCB1_000118
Refseq: not provided
PubMed: Bourdeaut F 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
+?/., -/., -?/.
4
5i
c.628+13C>T
benign, likely benign
r.(?), r.(=)
p.(=)
g.24145622C>T
g.23803435C>T
SMARCB1(NM_003073.3):c.628+13C>T
-
SMARCB1_000027
VKGL data sharing initiative Nederland
-
-
-
Germline, CLASSIFICATION record
-
-
-
-
-
Till Holsten
,
VKGL-NL_VUmc
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
?/.
6
5i_6i
c.629-361_795+2103dup
-
r.?
p.?
g.24158596_24161226dup
-
hg18 (chr22:g.22488596_22491226dup2631)
-
SMARCB1_000119
-
PubMed: Swensen JJ 2009
-
-
Germline
-
-
-
-
-
Julia Lopez
-/.
1
-
c.629-62A>G
-
r.(=)
p.(=)
g.24158895A>G
g.23816708A>G
-
-
SMARCB1_000006
-
-
-
rs9608192
Germline
-
frequency up to15%
-
-
-
Andreas Laner
-/.
1
-
c.629-58C>A
-
r.(=)
p.(=)
g.24158899C>A
g.23816712C>A
-
-
SMARCB1_000007
-
-
-
rs2070457
Germline
-
-
-
-
-
Andreas Laner
+?/., ?/.
3
5i
c.629-2A>G
-
r.spl, r.spl?
p.?
g.24158955A>G
g.23816768A>G
IVS5-2A>G
-
SMARCB1_000020
-
-
-
-
Germline
-
-
-
-
-
Till Holsten
,
Julia Lopez
?/.
1
5i_6i
c.(628+1_629-1)_(795+1_796-1)del
-
r.spl?
p.?
g.(2414561_24158956)_(24159124_24167411)del
-
Deletion of exon 6, not specified
-
SMARCB1_000031
Refseq: not provided
PubMed: Bourdeaut F 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
+/.
2
5i_6i
c.(628+1_629-1)_(795+1_796-1)del
-
r.?
p.?
g.(24145610_24158956)_(24167411_24159124)del
-
del Exon6
-
SMARCB1_000031
-
-
-
-
Germline
-
-
-
-
-
Till Holsten
?/.
1
5i_6i
c.(628+1_629-1)_(795+1_796-1)del
-
r.spl?
p.?
g.(2414561_24158956)_(24159124_24167411)del
-
Deletion of exon 6 (mosaic), not specified
-
SMARCB1_000031
Refseq reported:hg18
PubMed: Eaton KW 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
5i_6i
c.(628+1_629-1)_(795+1_796-1)dup
-
r.spl?
p.?
g.(2414561_24158956)_(24159124_24167411)dup
-
Duplication of exon 6, not specified
-
SMARCB1_000120
Refseq: not provided
PubMed: Ibrahim GM 2011
-
-
Germline
-
-
-
-
-
Julia Lopez
?/.
3
5i_6i
c.(628+1_629-1)_(795+1_796-1)dup
-
r.spl?
p.?
g.(2414561_24158956)_(24159124_24167411)dup
-
Duplication of Exon 6, not specified
-
SMARCB1_000120
Refseq reported:hg19
PubMed: Dunham C 2015
,
PubMed: Johann PD 2016
, {PMID:Savard ML 1989, PMID 2699663}
-
-
Germline
-
-
-
-
-
Julia Lopez
?/.
1
5i_6i
c.(628+1_629-1)_(795+1_796-1)dup
-
r.spl?
p.?
g.(2414561_24158956)_(24159124_24167411)dup
-
Duplication of exon 6, not specified
-
SMARCB1_000120
Refseq reported:hg18
PubMed: Eaton KW 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
?/.
1
5i_7i
c.(628+1_629-1)_(986+1_987-1)dup
-
r.spl?
p.?
g.(2414561_24158956)_(24167603_24175758)dup
-
Duplication of exon 67, not specified
-
SMARCB1_000121
Refseq: not provided
PubMed: Bourdeaut F 2011
-
-
Unknown
-
-
-
-
-
Julia Lopez
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