Global Variome shared LOVD
SDHC (succinate dehydrogenase complex, subunit C, i...)
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Curators:
Jean-Pierre Bayley
and
Peter Taschner
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Unique variants in the SDHC gene
This database is one of the TCA cycle gene variant databases
FH (fumarate hydratase)
SDHA (succinate dehydrogenase, subunit A)
SDHAF2 (succinate dehydrogenase, complex assembly factor 2)
SDHB (succinate dehydrogenase, subunit B)
SDHC (succinate dehydrogenase, subunit C)
SDHD (succinate dehydrogenase, subunit D)
The variants shown are described using the NM_003001.3 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 function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was 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. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
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
Predict/SIFT
: SIFT predicted effect of variant
Predicted
: predicted consequence of variant (RNA/protein level)
All options:
missense
nonsense
frameshift
no-stop
silent
splicing affected
splicing affected, exon skipped
splicing affected?
deletion
deletion, small
deletion, large
deletion, exon
deletion, multi exon
duplication
duplication, small
duplication, large
insertion
insertion, small
insertion, large
delins = insertion/deletion
conversion
other/complex
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, sex-linked and imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
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%)
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
92 entries on 1 page. Showing entries 1 - 92.
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Legend
How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Predict/SIFT
Predicted
Classification method
Clinical classification
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
+/.
1
-
c.-4559G>A
r.(?)
p.(=)
-
-
-
pathogenic
g.161279637G>A
g.161309847G>A
MPZ(NM_000530.6):c.59C>T (p.S20F)
-
MPZ_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
-
c.-4524G>A
r.(?)
p.(=)
-
-
-
benign
g.161279672G>A
g.161309882G>A
MPZ(NM_000530.6):c.24C>T (p.S8=)
-
MPZ_000195
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.-4485_-4480dup
r.(?)
p.(=)
-
-
-
likely benign
g.161279711_161279716dup
g.161309921_161309926dup
MPZ(NM_000530.6):c.-10_-5dupTGCCCC
-
MPZ_000213
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
1
c.-118_-117del
r.(=)
p.(=)
-
-
-
VUS
g.161284078_161284079del
g.161314288_161314289del
c.[-118_-117delAG];[=]
-
SDHC_000062
VUS
PubMed: Rattenberry
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
-/.
1
-
c.-38G>A
r.(?)
p.(=)
-
-
-
benign
g.161284158G>A
g.161314368G>A
-
-
MPZ_000214
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/+
1
_1
c.(?_-30)_(20+1_21-1)del
r.spl?
p.?
-
-
-
VUS
g.(?_161284166)_(161284216_161293403)del
-
exon 1 deletion
-
SDHC_000043
-
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/-
1
1
c.-12C>T
r.(=)
p.(=)
-
-
-
VUS
g.161284184C>T
g.161314394C>T
Promoter SNP
-
SDHC_000005
Reported as Promoter Polymorphism
PubMed: Bauters
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
2
1
c.1A>G
r.(?)
p.(Met1?)
-
-
-
VUS
g.161284196A>G
g.161314406A>G
1A/G M1V/loss of start codon, p.Met1?
-
SDHC_000006
-
PubMed: Schiavi
,
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+, +/?
2
1
c.2T>A
r.(?)
p.(Met1?)
-
-
-
pathogenic
g.161284197T>A
g.161314407T>A
-
-
SDHC_000022
-
PubMed: Neumann
-
-
Germline, Unknown
-
-
-
-
-
Jean-Pierre Bayley
,
Rita Domingues
?/+
1
1
c.3G>A
r.(?)
p.(Met1?)
-
-
-
VUS
g.161284198G>A
g.161314408G>A
G-->A Start codon ATG
-
SDHC_000001
-
PubMed: Niemann
,
PubMed: Neumann
,
PubMed: Malinoc
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/., +?/+?
2
1
c.6del
r.(?)
p.(Ala3Argfs*4)
-
-
-
VUS, likely pathogenic
g.161284201del
g.161314411del
-
-
SDHC_000063
SDHB IHC Neg, SDHA IHC Pos. Carney triad with ganglioneuroma
PubMed: Miettinen
,
PubMed: Boikos
-
-
Unknown
?
-
-
-
-
Jean-Pierre Bayley
?/., -?/.
2
1
c.8C>T
r.(?)
p.(Ala3Val)
0.03
missense
-
VUS, likely benign
g.161284203C>T
g.161314413C>T
-
-
SDHC_000064
VKGL data sharing initiative Nederland
PubMed: Lefebvre
-
-
Unknown, CLASSIFICATION record
-
-
-
-
-
Jean-Pierre Bayley
,
VKGL-NL_Nijmegen
?/.
1
1i_3i
c(.20+1_21-1)_(179+1_180-1)del
r.(?)
p.(Arg7_Tyr59del)
-
-
-
VUS
g.(161284216_161293403)_(161298288_161310383)del
-
c.20-? 180-?del
-
SDHC_000065
Deletion of chromosome 3 & 4
PubMed: Else
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/+?
1
1i
c.20+2T>G
r.spl?
p.?
-
-
-
VUS
g.161284217T>G
g.161314427T>G
IVS1+2A>C
-
SDHC_000016
-
PubMed: Fakhry
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
-/., ?/-
2
1i
c.20+11_20+12dup
r.(=)
p.(=)
-
-
-
benign, VUS
g.161284226_161284227dup
g.161314436_161314437dup
SDHC(NM_003001.3):c.20+13delGinsTGG
-
SDHC_000032
VKGL data sharing initiative Nederland, Allelic freq controls 11/200; patients 63/420
PubMed: Burnichon
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Groningen
,
Jean-Pierre Bayley
-/-
1
1i
c.20+13_20+14insTG
r.(=)
p.(=)
-
-
-
benign
g.161284228_161284229insTG
g.161314438_161314439insTG
IVS1+13insTG
-
SDHC_000010
-
Garcia-Rostan
-
-
Germline
-
12/192 (6.3%)
-
-
-
Jean-Pierre Bayley
-/., ?/-?
2
1i
c.20+82T>C
r.(=)
p.(=)
-
-
-
benign, VUS
g.161284297T>C
g.161314507T>C
-
-
SDHC_000033
VKGL data sharing initiative Nederland, Allelic freq: controls 10/156; patients 9/420
PubMed: Burnichon
-
rs11265589
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Nijmegen
,
Jean-Pierre Bayley
?/-?
1
1i
c.21-96C>T
r.(=)
p.(=)
-
-
-
VUS
g.161293308C>T
g.161323518C>T
-
-
SDHC_000036
Allelic freq: controls 17/200; patients 68/428
PubMed: Burnichon
-
rs4255403
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+?
1
1i
c.21-2A>C
r.spl?
p.(=)
-
-
-
VUS
g.161293402A>C
g.161323612A>C
Splicesite
-
SDHC_000035
-
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+
1
2
c.23dup
r.(?)
p.(His8Glnfs*12)
-
-
-
pathogenic
g.161293406dup
g.161323616dup
-
-
SDHC_000023
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
-
c.31C>T
r.(?)
p.(Arg11Cys)
-
-
-
VUS
g.161293414C>T
g.161323624C>T
SDHC(NM_003001.3):c.31C>T (p.R11C)
-
SDHC_000086
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/+
1
2
c.39C>A
r.(?)
p.(Cys13*)
-
-
-
VUS
g.161293422C>A
g.161323632C>A
39 C/A, C13X
-
SDHC_000007
-
PubMed: Schiavi
,
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+?/+, ?/+
2
2
c.43C>T
r.(?)
p.(Arg15*)
-
-
-
likely pathogenic, VUS
g.161293426C>T
g.161323636C>T
p.Arg15X
-
SDHC_000013
-
PubMed: Pasini
,
PubMed: Neumann
,
PubMed: Vandy
,
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
2
c.49del
r.(?)
p.(His17Thrfs*30)
-
-
-
VUS
g.161293432del
g.161323642del
-
-
SDHC_000066
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
2
c.68del
r.(?)
p.(Cys23Leufs*24)
-
-
-
VUS
g.161293451del
g.161323661del
-
-
SDHC_000067
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
2i
c.77+2dup
r.spl?
p.(=)
-
-
-
VUS
g.161293462dup
g.161323672dup
c.[77+2dupT];[=]
-
SDHC_000049
abnormal mRNA exon 2 skipping, UK, Pathogenic
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
-?/.
1
-
c.77+3A>G
r.spl?
p.?
-
-
-
likely benign
g.161293463A>G
g.161323673A>G
SDHC(NM_003001.3):c.77+3A>G
-
SDHC_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
-/-?
1
2i
c.77+36T>A
r.(=)
p.(=)
-
-
-
benign
g.161293496T>A
g.161323706T>A
IVS2
-
SDHC_000012
No predicted splice site change, not in dbSNP
-
-
-
Unknown
-
-
-
-
-
Janneke Weiss
-?/.
1
-
c.78-19C>T
r.(=)
p.(=)
-
-
-
likely benign
g.161298167C>T
g.161328377C>T
SDHC(NM_003001.3):c.78-19C>T
-
SDHC_000070
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/+
1
2i
c.78-2A>G
r.spl?
p.(=)
-
-
-
VUS
g.161298184A>G
g.161328394A>G
-
-
SDHC_000017
Proven exon 3 skipping, adrenal pheo & EA-PGL
PubMed: Peczkowska
,
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
2i_3i
c.(77+1_78-1)_(179+1_180-1)del
r.(?)
p.(Ala27_Ser60del)
-
-
-
VUS
g.(161293461_161298185)_(161298288_161310383)del
-
-
-
SDHC_000068
Deletion of exon 3
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
1i_2i
c.(220+1_221-1)_(77+1_78-1)del
r.?
p.?
-
-
-
VUS
g.(161284216_161293403)_(161293461_161298185)del
-
exon 2 deletion
-
SDHC_000034
LOH at SDHC locus; SDHB protein expression=0
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
-?/.
1
-
c.120G>A
r.(?)
p.(Arg40=)
-
-
-
likely benign
g.161298228G>A
g.161328438G>A
-
-
SDHC_000087
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/+
1
3
c.126G>A
r.(?)
p.(Trp42*)
-
-
-
VUS
g.161298234G>A
g.161328444G>A
-
-
SDHC_000011
-
PubMed: Mannelli
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/?
1
3
c.128A>G
r.(?)
p.(Asn43Ser)
-
-
-
pathogenic
g.161298236A>G
g.161328446A>G
-
-
SDHC_000045
-
-
-
-
Unknown
-
-
-
-
-
Yang Zha
?/., +/?
2
3
c.148C>T
r.(?)
p.(Arg50Cys)
0.00
-
-
VUS, likely pathogenic
g.161298256C>T
g.161328466C>T
c.[148C>T];[=]
-
SDHC_000024
VUS
PubMed: Rattenberry
,
PubMed: Neumann
-
-
Unknown, Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
3
c.154_155del
r.(?)
p.(Leu52Valfs*45)
-
-
-
VUS
g.161298262_161298263del
g.161328472_161328473del
-
-
SDHC_000050
-
PubMed: Fruhmann
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/?
1
3
c.166A>T
r.(?)
p.(Ile56Phe)
-
-
-
VUS
g.161298274A>T
g.161328484A>T
-
-
SDHC_000025
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/?
1
3
c.173T>C
r.(?)
p.(Ile58Thr)
-
-
-
pathogenic
g.161298281T>C
g.161328491T>C
-
-
SDHC_000026
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+?/.
1
-
c.179G>T
r.(?)
p.(Ser60Ile)
-
-
-
likely pathogenic
g.161298287G>T
g.161328497G>T
-
-
SDHC_000082
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/+
1
3i_6
c.(179+1_180-1)_(*2318_?)del
r.spl?
p.?
-
-
-
VUS
g.(161298288_161310383)_(161334541)del
-
Deletion Exon 4-6
-
SDHC_000030
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+?/+
1
4
c.183G>A
r.(?)
p.(Trp61*)
-
-
-
likely pathogenic
g.161310387G>A
g.161340597G>A
-
-
SDHC_000019
-
PubMed: Garrel
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/-?
1
4
c.197C>T
r.(?)
p.(Ala66Val)
-
-
-
VUS
g.161310401C>T
g.161340611C>T
-
-
SDHC_000047
-
PubMed: Ni
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
2
-
c.202T>C
r.(?)
p.(Ser68Pro)
-
-
-
VUS
g.161310406T>C
g.161340616T>C
SDHC(NM_003001.3):c.202T>C (p.S68P)
-
SDHC_000083
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
,
VKGL-NL_Nijmegen
+/?
1
4
c.210C>G
r.(?)
p.(Cys70Trp)
-
-
-
pathogenic
g.161310414C>G
g.161340624C>G
-
-
SDHC_000027
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
4
c.214C>G
r.(?)
p.(Arg72Gly)
-
-
-
VUS
g.161310418C>G
g.161340628C>G
-
-
SDHC_000051
-
PubMed: Else
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/+?
2
4
c.214C>T
r.(?)
p.(Arg72Cys)
0.00
-
-
likely pathogenic, VUS
g.161310418C>T
g.161340628C>T
214 C/T, R72C, p.Arg72Cys
-
SDHC_000008
functional domain, conserved residue, 0/164 controls
PubMed: Bayley
,
PubMed: Schiavi
,
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+?
1
4
c.215G>A
r.(?)
p.(Arg72His)
-
-
-
VUS
g.161310419G>A
g.161340629G>A
p.Arg72His
-
SDHC_000037
-
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+
1
4
c.218_219insA
r.(?)
p.(Thr74Hisfs*24)
-
-
-
pathogenic
g.161310422_161310423insA
g.161340632_161340633insA
p.Thr74HisfsX24
-
SDHC_000028
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+?/+?, +/+?
2
4
c.224G>A
r.(?)
p.(Gly75Asp)
-
-
-
likely pathogenic, pathogenic
g.161310428G>A
g.161340638G>A
-
-
SDHC_000029
SDHB IHC Neg
PubMed: Boikos
,
PubMed: Neumann
-
-
Unknown, Germline
?
-
-
-
-
Jean-Pierre Bayley
?/-?
1
4
c.241G>C
r.(?)
p.(Gly81Arg)
-
-
-
VUS
g.161310445G>C
g.161340655G>C
p.Gly81Arg
-
SDHC_000039
-
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/-?
1
4i
c.241+74C>T
r.(=)
p.(=)
-
-
-
VUS
g.161310519C>T
g.161340729C>T
c.242+74C>T
-
SDHC_000038
Allelic freq: controls 16/200; patients 62/428
PubMed: Burnichon
-
rs9970904
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+
1
4i_6
c.242-241_*1978del
r.spl?
p.?
-
-
-
pathogenic
g.161326226_161334201del
g.161356436_161364411del
Deletion Exon 5 & 6
-
SDHC_000044
-
PubMed: Bayley
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
4i
c.242-22A>G
r.(=)
p.(=)
-
-
-
VUS
g.161326445A>G
g.161356655A>G
-
-
SDHC_000052
Normal cDNA sequences
PubMed: Lefebvre
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
4i_5i
c.(241+1_242-1)_(405+1_406-1)del
r.spl?
p.?
-
-
-
VUS
g.(161310446_161326466)_(161326631_161332118)del
-
Deletion Exon 5
-
SDHC_000031
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
-?/-?
1
5
c.244G>T
r.(?)
p.(Val82Phe)
-
-
-
likely benign
g.161326469G>T
g.161356679G>T
-
-
SDHC_000021
SNP in healthy controls
PubMed: López-Jiménez
-
-
Germline
-
3/1020
-
-
-
Jean-Pierre Bayley
+?/?, ?/?
2
5
c.253_255dup
r.(?)
p.(Phe85dup)
-
-
-
likely pathogenic, VUS
g.161326478_161326480dup
g.161356688_161356690dup
p.Phe85dup
-
SDHC_000020
Predicted splicing defect (in-silico)
PubMed: López-Jiménez
,
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
-/.
1
-
c.273A>G
r.(?)
p.(Leu91=)
-
-
-
benign
g.161326498A>G
g.161356708A>G
SDHC(NM_003001.3):c.273A>G (p.L91=)
-
SDHC_000071
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
-?/.
1
-
c.295T>A
r.(?)
p.(Tyr99Asn)
-
-
-
likely benign
g.161326520T>A
g.161356730T>A
SDHC(NM_003001.3):c.295T>A (p.Y99N)
-
SDHC_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
-?/.
1
-
c.306T>C
r.(?)
p.(Leu102=)
-
-
-
likely benign
g.161326531T>C
g.161356741T>C
SDHC(NM_003001.3):c.306T>C (p.L102=)
-
SDHC_000073
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
-?/.
1
-
c.307G>C
r.(?)
p.(Val103Leu)
-
-
-
likely benign
g.161326532G>C
g.161356742G>C
SDHC(NM_003001.3):c.307G>C (p.V103L)
-
SDHC_000074
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
1
5
c.328C>T
r.(?)
p.(Pro110Ser)
0.53
-
-
likely benign
g.161326553C>T
g.161356763C>T
-
-
SDHC_000053
VUS
PubMed: Crona
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
-/.
1
-
c.354T>C
r.(?)
p.(Phe118=)
-
-
-
benign
g.161326579T>C
g.161356789T>C
-
-
SDHC_000085
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.360T>C
r.(?)
p.(Leu120=)
-
-
-
likely benign
g.161326585T>C
g.161356795T>C
SDHC(NM_003001.3):c.360T>C (p.L120=)
-
SDHC_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
2
5
c.379C>T
r.(?)
p.(His127Tyr)
Deleterious
-
-
VUS
g.161326604C>T
g.161356814C>T
c.379C>T,p.His127Tyr
-
SDHC_000054
Align GVGD: Class C65
PubMed: Buffet
,
PubMed: Else
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
5
c.380A>G
r.(?)
p.(His127Arg)
0.00
-
-
likely pathogenic
g.161326605A>G
g.161356815A>G
c.[380A>G];[=]
-
SDHC_000055
VUS
PubMed: Miettinen
,
PubMed: Rattenberry
,
PubMed: Dénes
,
PubMed: Gill
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
+/., ?/+
4
5
c.397C>T
r.(?)
p.(Arg133*)
-
-
-
pathogenic, VUS
g.161326622C>T
g.161356832C>T
p.Arg133X
-
SDHC_000015
-
PubMed: Fostira 2020
,
PubMed: Zbuk 2007
,
PubMed: Zbuk
,
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Florentia Fostira
,
James Whitworth
,
Jean-Pierre Bayley
+?/+?, ?/+?
2
5i
c.405+1G>A
r.spl?
p.?, p.(=)
-
-
-
likely pathogenic, VUS
g.161326631G>A
g.161356841G>A
IVS5
-
SDHC_000014
SDHB IHC Neg, SDHA IHC Pos
PubMed: Boikos
,
PubMed: Pasini
-
-
Unknown, Germline
?
-
-
-
-
Jean-Pierre Bayley
?/.
1
5i
c.405+1G>C
r.spl?
p.(=)
-
-
-
VUS
g.161326631G>C
g.161356841G>C
-
-
SDHC_000056
-
PubMed: Else
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
+/., ?/+?
2
5i
c.405+1G>T
r.spl?
p.?, p.(=)
-
-
-
pathogenic, VUS
g.161326631G>T
g.161356841G>T
SDHC(NM_003001.3):c.405+1G>T, (IVS5), G->T+1 Intron 5, 405+1 G/T
-
SDHC_000002
VKGL data sharing initiative Nederland, aberrant splicing
PubMed: Niemann
,
PubMed: Schiavi
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Utrecht
,
Jean-Pierre Bayley
-?/.
1
-
c.405+12C>T
r.(=)
p.(=)
-
-
-
likely benign
g.161326642C>T
g.161356852C>T
-
-
SDHC_000095
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.405+13G>A
r.(=)
p.(=)
-
-
-
likely benign
g.161326643G>A
g.161356853G>A
-
-
SDHC_000088
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
5i
c.405+23C>T
r.(=)
p.(=)
-
-
-
VUS
g.161326653C>T
g.161356863C>T
-
-
SDHC_000057
-
PubMed: Iacobone
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/?
1
5i
c.405+25T>C
r.(=)
p.(=)
-
-
-
VUS
g.161326655T>C
g.161356865T>C
-
-
SDHC_000018
-
-
-
-
Unknown
-
-
-
-
-
Janneke Weiss
?/-?
1
5i
c.405+84G>C
r.(=)
p.(=)
-
-
-
VUS
g.161326714G>C
g.161356924G>C
c.510+84G>C
-
SDHC_000041
Allelic freq: controls 0/200; patients 1/422
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
5i_6
c.406-550_*2318delins4?
r.(?)
p.?
-
-
-
VUS
g.161331569_161334541delins4?
-
8372 base-pair deletion spanning exon 6
-
SDHC_000003
-
PubMed: Baysal
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
-/.
1
-
c.406-15_406-14del
r.(=)
p.(=)
-
-
-
benign
g.161332104_161332105del
g.161362314_161362315del
SDHC(NM_003001.3):c.406-15_406-14delTT
-
SDHC_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
-?/.
1
-
c.406-14_406-13del
r.(=)
p.(=)
-
-
-
likely benign
g.161332105_161332106del
g.161362315_161362316del
SDHC(NM_003001.3):c.406-14_406-13delTG
-
SDHC_000077
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/.
1
-
c.406-13G>T
r.(=)
p.(=)
-
-
-
benign
g.161332106G>T
g.161362316G>T
SDHC(NM_003001.3):c.406-13G>T
-
SDHC_000078
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/.
1
-
c.406-12C>T
r.(=)
p.(=)
-
-
-
benign
g.161332107C>T
g.161362317C>T
SDHC(NM_003001.3):c.406-12C>T
-
SDHC_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.406-8G>T
r.(=)
p.(=)
-
-
-
likely benign
g.161332111G>T
g.161362321G>T
SDHC(NM_003001.3):c.406-8G>T
-
SDHC_000079
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.406-6C>T
r.(=)
p.(=)
-
-
-
likely benign
g.161332113C>T
g.161362323C>T
SDHC(NM_001035511.1):c.242-6C>T (p.(=))
-
SDHC_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/.
1
6
c.419G>A
r.(?)
p.(Gly140Glu)
0.00
missense
-
likely pathogenic
g.161332132G>A
g.161362342G>A
-
-
SDHC_000058
-
PubMed: Lefebvre
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
+/.
1
-
c.436C>A
r.(?)
p.(Pro146Thr)
-
-
-
pathogenic
g.161332149C>A
g.161362359C>A
-
-
SDHC_000048
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
?/?
1
6
c.439C>T
r.(?)
p.(Gln147*)
-
-
-
VUS
g.161332152C>T
g.161362362C>T
439 C/T, Q147X
-
SDHC_000009
-
PubMed: Schiavi
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
6
c.455G>C
r.(?)
p.(Gly152Ala)
0.00
-
-
likely pathogenic
g.161332168G>C
g.161362378G>C
-
-
SDHC_000059
GIST
PubMed: Pantaleo
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/?, ?/.
3
6
c.473T>C
r.(?)
p.(Leu158Pro)
-
-
-
VUS
g.161332186T>C
g.161362396T>C
c.473T>C, L158P, p.Leu158Pro
-
SDHC_000004
VKGL data sharing initiative Nederland
PubMed: Bauters
,
PubMed: Burnichon
-
-
Germline, CLASSIFICATION record
-
-
-
-
-
Jean-Pierre Bayley
,
VKGL-NL_Nijmegen
?/.
1
6
c.481T>G
r.(?)
p.(Leu161Val)
0.73
missense
-
VUS
g.161332194T>G
g.161362404T>G
-
-
SDHC_000060
-
PubMed: Lefebvre
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
-?/., ?/.
2
6
c.490A>T
r.(?)
p.(Met164Leu)
0.55
missense
-
likely benign
g.161332203A>T
g.161362413A>T
SDHC(NM_003001.3):c.490A>T (p.M164L)
-
SDHC_000061
VKGL data sharing initiative Nederland, VUS
PubMed: Crona
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
VKGL-NL_VUmc
,
Jean-Pierre Bayley
+?/?
1
6
c.497T>G
r.(?)
p.(Leu166Arg)
-
-
-
likely pathogenic
g.161332210T>G
g.161362420T>G
-
-
SDHC_000046
-
-
-
-
Unknown
-
-
-
-
-
Yang Zha
?/.
1
-
c.*18C>T
r.(=)
p.(=)
-
-
-
VUS
g.161332241C>T
g.161362451C>T
SDHC(NM_001035511.1):c.364C>T (p.H122Y)
-
SDHC_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.*78G>A
r.(=)
p.(=)
-
-
-
likely benign
g.161332301G>A
g.161362511G>A
SDHC(NM_001035511.1):c.424G>A (p.A142T)
-
SDHC_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
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