Global Variome shared LOVD
SDHD (succinate dehydrogenase complex, subunit D, i...)
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Curators:
Jean-Pierre Bayley
and
Peter Taschner
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Unique variants in the SDHD gene
LUMC SDHD gene variant database
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_003002.2 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
IARC
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, 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
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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'
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164 entries on 2 pages. Showing entries 1 - 100.
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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
_1_2i
c.-25655_169+315del
r.?
p.?
-
-
-
likely pathogenic
g.111931979_111959014del
g.112061255_112088290del
Chromosome 11q deletion
-
SDHD_000128
(27036 bp del) - breakpoints in MER2B and AluSx repeats
PubMed: Cadiñanos
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+
5
_1_2i
c.-8828_169+442del
r.0?, r.?
p.0?, p.?
-
-
-
pathogenic
g.111948804_111959139del
g.112078080_112088415del
1-8828_169+442del, Deletion Exon 1 & 2
-
SDHD_000121
Deletion also affects entire TIMM8B gene
Journal: Heesterman 2018
,
PubMed: Bayley
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
,
Berdine Heesterman
+/+
1
_1_2i
c.-1427_169+29del
r.?
p.?
-
-
-
pathogenic
g.111956205_111958726del
g.112085481_112088002del
Deletion Exon 1 & 2
-
SDHD_000122
Also deletion of exon 1 of the TIMM8B gene.
PubMed: Bayley
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
_1_2i
c.(?_-61)_(169+1_170-1)del
r.?
p.?
-
-
-
VUS
g.(?_111957571)_(111958698_111959590)del
-
Deletion Exons 1-2
-
SDHD_000116
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
2
_1_4_
c.(?_-61)_(*824_?)del
r.?
p.?
-
-
-
VUS
g.(?_111957571)_(111966518_?)del
-
approximately 96-kb deletion spanning SDHD, Deletion Exons 1-4
-
SDHD_000025
0/1 controls
PubMed: McWhinney
,
PubMed: Neumann
,
PubMed: Piccini
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
-?/.
1
-
c.-19T>C
r.(?)
p.(=)
-
-
-
likely benign
g.111957613T>C
g.112086889T>C
-
-
SDHD_000175
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/+, ?/+
2
1
c.1A>G
r.(?)
p.(Met1?)
-
-
-
pathogenic, VUS
g.111957632A>G
g.112086908A>G
A-->G (M1V)
-
SDHD_000021
0/117 controls, LOH in tumor
PubMed: Riemann
,
PubMed: Wang
-
-
Germline, Unknown
-
-
-
-
-
Yang Zha
,
Jean-Pierre Bayley
+?/+?
1
1
c.2T>A
r.(?)
p.(Met1?)
-
-
-
likely pathogenic
g.111957633T>A
g.112086909T>A
p.Met1Lys
-
SDHD_000142
-
PubMed: Piccini
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
1
c.2T>C
r.(?)
p.(Met1?)
-
-
-
VUS
g.111957633T>C
g.112086909T>C
-
-
SDHD_000170
No start codon. First ATG out of frame
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
+/+
1
1
c.2_3inv
r.(?)
p.(Met1?)
-
-
-
pathogenic
g.111957633_111957634inv
g.112086909_112086910inv
M1S
-
SDHD_000109
-
-
-
-
Unknown
-
-
-
-
-
Yang Zha
+/+
1
1
c.3G>A
r.(?)
p.(Met1?)
-
-
-
pathogenic
g.111957634G>A
g.112086910G>A
-
-
SDHD_000091
-
PubMed: Cascon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+, +/?, ?/+
3
1
c.3G>C
r.(?)
p.(Met1?), p.0?
-
-
-
pathogenic, VUS
g.111957634G>C
g.112086910G>C
G to C (Met1Ile), 3G>C/M1I, M1I, Met1lle
-
SDHD_000015
-
Journal: Heesterman 2018
,
1 more item
-
-
Germline, Unknown
-
-
-
-
-
Yang Zha
,
Jean-Pierre Bayley
,
Berdine Heesterman
?/+
1
1
c.14G>A
r.(?)
p.(Trp5*)
-
-
-
VUS
g.111957645G>A
g.112086921G>A
14 G/A Trp5-->Stop
-
SDHD_000026
-
PubMed: Cascon
,
PubMed: Neumann
,
PubMed: Neumann
,
PubMed: Badenhop
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
1
c.19_35del
r.(?)
p.(Leu7Cysfs*56)
-
-
-
VUS
g.111957650_111957666del
g.112086926_112086942del
c.19_35delCTGAGTGCCGTTTGCGG
-
SDHD_000165
-
PubMed: Rapizzi
-
-
Somatic
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
1
c.21del
r.(?)
p.(Ser8Valfs*7)
-
-
-
VUS
g.111957652del
g.112086928del
L7fsX14
-
SDHD_000056
Australia
PubMed: Benn
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
1
c.28_33delinsTAGGAGGCCCTA
r.(?)
p.(Val10*)
-
-
-
VUS
g.111957659_111957664delinsTAGGAGGCCCTA
g.112086935_112086940delinsTAGGAGGCCCTA
Insertion of a TAG stop codon
-
SDHD_000078
-
PubMed: Neumayer
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/., ?/+
2
1
c.33C>A
r.(?)
p.(Cys11*)
-
-
ACMG
pathogenic, VUS
g.111957664C>A
g.112086940C>A
-
-
SDHD_000027
1 more item
PubMed: Neumann
,
PubMed: Neumann
,
PubMed: Peczkowska
-
rs104894309
Germline
-
-
-
-
-
Andreas Laner
,
Jean-Pierre Bayley
-/-
1
1
c.33C>T
r.(?)
p.(=)
-
-
-
benign
g.111957664C>T
g.112086940C>T
-
-
SDHD_000110
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
-/., -?/., ?/-, ?/.
7
1
c.34G>A
r.(?)
p.(Gly12Ser)
-
-
-
benign, likely benign, VUS
g.111957665G>A
g.112086941G>A
p.Gly12Ser, SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_003002.3):c.34G>A (p.G12S)
-
SDHD_000011
2 homozygous;
Clinindb (India)
, 9 heterozygous;
Clinindb (India)
,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
,
PubMed: Taylor 2014
,
1 more item
-
rs34677591
CLASSIFICATION record, Germline
-
2.5 - 5.3%, 2/2795 individuals, 9/2795 individuals
-
-
-
Johan den Dunnen
,
Jean-Pierre Bayley
,
VKGL-NL_Leiden
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
,
Mohammed Faruq
?/+
1
1
c.36_37del
r.(?)
p.(Ala13Profs*55)
-
-
-
VUS
g.111957667_111957668del
g.112086943_112086944del
c.36, 37 del TG (Frame shift)
-
SDHD_000028
-
PubMed: Neumann
,
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+, ?/+
2
1
c.49C>T
r.(?)
p.(Arg17*)
-
-
-
pathogenic, VUS
g.111957680C>T
g.112086956C>T
R17X
-
SDHD_000085
-
PubMed: Neumann
,
PubMed: Papaspyrou
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/-?
1
1
c.50G>T
r.(?)
p.(Arg17Leu)
-
-
-
VUS
g.111957681G>T
g.112086957G>T
-
-
SDHD_000077
-
Garcia-Rostan
PubMed: Lima
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+?
1
1i
c.52+2T>G
r.spl
p.?
-
-
-
VUS
g.111957685T>G
g.112086961T>G
c.IVS1+2T>G
-
SDHD_000010
0/78 controls/ Abberant splicing?
PubMed: Gimm
,
PubMed: Neumann
,
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+
1
1i_2i
c.52+5_169+325delins235
r.?
p.?
-
deletion, large
-
pathogenic
g.111957688_111959022delins235?
-
Deletion Exon 2
-
SDHD_000123
-
PubMed: Bayley
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
1i
c.53-52_53-49del
r.(?)
p.(=)
-
-
-
VUS
g.111958529_111958532del
g.112087805_112087808del
c.53?52_?55delGTCA
-
SDHD_000166
-
PubMed: Persu
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
+/+?, +?/+?
2
1i
c.53-2A>G
r.spl
p.?
-
-
-
likely pathogenic, pathogenic
g.111958579A>G
g.112087855A>G
-
-
SDHD_000111
Aberrant splicing?, Skipping of exon 2
PubMed: Hermsen
,
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
-?/.
3
-
c.53C>T
r.(?)
p.(Ala18Val)
-
-
-
likely benign
g.111958581C>T
g.112087857C>T
1 more item
-
SDHD_000173
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_VUmc
?/+
1
1
c.55_56dup
r.(?)
p.(Leu20Cysfs*67)
-
-
-
VUS
g.111958583_111958584dup
g.112087859_112087860dup
g.6759 insC Frameshift after A18
-
SDHD_000018
-
PubMed: Taschner
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
1
c.57del
r.(?)
p.(Leu20Cysfs*66)
-
-
-
VUS
g.111958585del
g.112087861del
-
-
SDHD_000080
-
PubMed: Pasini
,
PubMed: Ghayee
,
PubMed: Lodish
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
2
c.64C>T
r.(?)
p.(Arg22*)
-
-
-
VUS
g.111958592C>T
g.112087868C>T
g.6769 C->T (R22X), 64C>T/R22X
-
SDHD_000012
-
1 more item
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/-
1
2
c.90T>C
r.(?)
p.(=)
-
-
-
VUS
g.111958618T>C
g.112087894T>C
p.His30His
-
SDHD_000024
0/150-200
PubMed: Cascon
-
-
Germline
-
> 1 %
-
-
-
Jean-Pierre Bayley
+/., ?/+
2
2
c.94_95del
r.(?)
p.(Ala33Ilefs*35), p.(Ala33IlefsTer35)
-
-
-
pathogenic (dominant), VUS
g.111958622_111958623del
g.112087898_112087899del
2 bp frameshift 6799-6800, (F933>X67).
-
SDHD_000017
0/40 controls
PubMed: Astuti
,
PubMed: Marvin
,
PubMed: Ricketts
,
PubMed: Kim 2021
-
-
Germline, Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
,
Jean-Pierre Bayley
?/+
1
2
c.95C>A
r.(?)
p.(Ser32*)
-
-
-
VUS
g.111958623C>A
g.112087899C>A
p.S32X
-
SDHD_000008
-
PubMed: Milunsky
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
2
c.106C>T
r.(?)
p.(Gln36*)
-
-
-
VUS
g.111958634C>T
g.112087910C>T
CAG -> TAG Gln36 ->Stop
-
SDHD_000001
-
PubMed: Baysal
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+, +/., ?/+
3
2
c.112C>T
r.(?)
p.(Arg38*), p.(Arg38Ter)
-
-
-
pathogenic, pathogenic (dominant), VUS
g.111958640C>T
g.112087916C>T
CGA ->TGA Arg38->Stop, C.112 C>T (R38X), C112T Codon 38, Arg to Stop, R38X
-
SDHD_000002
-
PubMed: Kim 2021
,
1 more item
-
-
Germline, Germline/De novo (untested), Unknown
-
-
-
-
-
Johan den Dunnen
,
Yang Zha
,
Jean-Pierre Bayley
?/.
1
2
c.116del
r.(?)
p.(Pro39Leufs*47)
-
-
-
VUS
g.111958644del
g.112087920del
-
-
SDHD_000167
-
PubMed: Persu
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
+?/-?
1
2
c.118A>G
r.(?)
p.(Ile40Val)
-
-
-
likely pathogenic
g.111958646A>G
g.112087922A>G
-
-
SDHD_000107
-
-
-
-
Unknown
-
0/274
-
-
-
Ginesa Garcia-Rostan
?/.
1
2
c.119_125del
r.(?)
p.(Ile40Asnfs*44)
-
-
-
VUS
g.111958647_111958653del
g.112087923_112087929del
-
-
SDHD_000168
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
2
c.120_127del
r.(?)
p.(Ile40Metfs*26)
-
-
-
VUS
g.111958648_111958655del
g.112087924_112087931del
-
-
SDHD_000075
-
PubMed: Lima
,
PubMed: Sevilla
-
-
Unknown
-
-
-
-
-
Ginesa Garcia-Rostan
?/+
1
2
c.122dup
r.(?)
p.(Glu42Argfs*27)
-
-
-
VUS
g.111958650dup
g.112087926dup
g.6825 insC Frameshift after P41
-
SDHD_000032
-
PubMed: Taschner
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/-
1
2
c.125A>C
r.(?)
p.(Glu42Ala)
-
-
-
VUS
g.111958653A>C
g.112087929A>C
-
-
SDHD_000033
not conserved, 0/150-200 controls, located near 2 known polymorphisms.
PubMed: Cascon
-
-
Germline
-
> 1 %
-
-
-
Jean-Pierre Bayley
?/+
1
2
c.129G>A
r.(?)
p.(Trp43*)
-
-
-
VUS
g.111958657G>A
g.112087933G>A
TGG -> TGA Trp43 -> Stop
-
SDHD_000023
First case of Maternal Transmission? (France, Pigny et al),
1 more item
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/-
1
2
c.138G>A
r.(?)
p.(=)
-
-
-
VUS
g.111958666G>A
g.112087942G>A
p.Val46Val
-
SDHD_000065
-
DBSubm003
-
-
Unknown
-
-
-
-
-
Jovana Vignjevic
?/.
1
2
c.139C>T
r.(?)
p.(Gln47*)
-
-
-
VUS
g.111958667C>T
g.112087943C>T
-
-
SDHD_000169
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
2
c.147dup
r.(?)
p.(His50Thrfs*19)
-
-
-
VUS
g.111958675dup
g.112087951dup
c.147-148insA, p.H50fsX68
-
SDHD_000052
-
PubMed: Astrom
,
PubMed: Lendvai
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/., -/., -?/., ?/-, ?/.
6
2
c.149A>G
r.(?)
p.(His50Arg)
-
-
-
benign, likely benign, pathogenic, VUS
g.111958677A>G
g.112087953A>G
CAC -> CGC, A160G (H50R), g.6854 A>G,
1 more item
-
SDHD_000019
conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous;
Clinindb (India)
,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
,
1 more item
-
rs11214077
CLASSIFICATION record, Germline
-
1.0 - 3.0%, 7/2793 individuals
-
-
-
Andreas Laner
,
Jean-Pierre Bayley
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
,
Mohammed Faruq
?/+, ?/., ?/?
3
2
c.149dup
r.(?)
p.(His50Glnfs*19)
-
-
-
VUS
g.111958677dup
g.112087953dup
p.His50fs, H50fsX68
-
SDHD_000057
-
PubMed: Amar
,
PubMed: Benn
,
PubMed: Buffet
,
PubMed: Lendvai
-
-
Germline, Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/.
2
2
c.158C>T
r.(?)
p.(Pro53Leu)
-
-
-
VUS
g.111958686C>T
g.112087962C>T
SDHD(NM_003002.3):c.158C>T (p.P53L)
-
SDHD_000145
VKGL data sharing initiative Nederland
PubMed: Lefebvre
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Jean-Pierre Bayley
,
VKGL-NL_VUmc
?/.
1
2
c.166del
r.(?)
p.(His56Ilefs*30)
-
-
-
VUS
g.111958694del
g.112087970del
-
-
SDHD_000146
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
2
c.168_169del
r.(?)
p.(Ser57Trpfs*11)
-
-
-
VUS
g.111958696_111958697del
g.112087972_112087973del
170-171delTT
-
SDHD_000054
-
PubMed: Velasco
,
PubMed: Cascon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+?/+?, ?/+?
4
2_2i
c.169_169+9del
r.spl
p.?
-
-
-
likely pathogenic, VUS
g.111958697_111958706del
g.112087973_112087982del
169_169+9 del TGTATGTTCT, delTGTATGTTCT affects exon 2 & IVS2. Aberrant splicing?
-
SDHD_000074
deletion of last nucleotide of exon 2 and splice donor site of intron 2 - splicing defect?
DBSubm001,
Journal: Heesterman 2018
-
-
Germline, Unknown
-
-
-
-
-
Janneke Weiss
,
Berdine Heesterman
+/+?, +/.
2
2i
c.169+1G>A
r.spl, r.spl?
p.?
-
-
-
pathogenic
g.111958698G>A
g.112087974G>A
-
-
SDHD_000132
Exclusion of exon 2 during splicing, VKGL data sharing initiative Nederland
PubMed: Srirangalingam
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Jean-Pierre Bayley
,
VKGL-NL_Nijmegen
?/+?
1
2i
c.169+1G>T
r.spl
p.?
-
-
-
VUS
g.111958698G>T
g.112087974G>T
c.IVS2+1G>T Aberrant splicing?
-
SDHD_000058
-
PubMed: Benn
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
2i
c.169+5G>A
r.spl?
p.?
-
-
-
VUS
g.111958702G>A
g.112087978G>A
-
-
SDHD_000084
France. Splicesite mutation? cDNA: SDHD exon 2 skipping
PubMed: Timmers
,
PubMed: Burnichon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/-
1
2i
c.169+67C>T
r.(?)
p.(=)
-
-
-
VUS
g.111958764C>T
g.112088040C>T
-
-
SDHD_000069
-
DBSubm001
-
-
Unknown
-
-
-
-
-
Janneke Weiss
-/-
1
2i
c.170-29A>G
r.(?)
p.(=)
-
-
-
benign
g.111959562A>G
g.112088838A>G
c.IVS3-29A>G; but located in IVS2
-
SDHD_000030
-
PubMed: De Preter
,
PubMed: Aguiar
-
-
Germline
-
4.4- 7.5%
-
-
-
Jean-Pierre Bayley
?/.
1
2i
c.170-2A>T
r.spl
p.?
-
-
-
VUS
g.111959589A>T
g.112088865A>T
-
-
SDHD_000147
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
+?/., ?/+
2
2i
c.170-1G>T
r.spl
p.?
-
-
-
likely pathogenic (recessive), VUS
g.111959590G>T
g.112088866G>T
c.IVS2-1G>T Aberrant splicing?
-
SDHD_000031
ACMG PVS1, PM2, PP3, PP5, PP4
PubMed: Schuermans 2022
,
1 more item
-
-
Germline, Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
,
Jean-Pierre Bayley
+?/+, ?/+
2
1i_3i
c.(169+1_170-1)_(314+1_315-1)del
r.?
p.?
-
-
-
likely pathogenic, VUS
g.(111958698_111959590)_(111959736_111965528)del
-
Deletion Exons 3, exon 3 del
-
SDHD_000099
-
PubMed: Fish
,
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
1i_4_
c.(169+1_170-1)_(*824_?)del
r.?
p.?
-
-
-
VUS
g.(111958698_111959590)_(111966518_?)del
-
Deletion Exons 3-4
-
SDHD_000114
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
-
c.180G>A
r.(?)
p.(Lys60=)
-
-
-
VUS
g.111959601G>A
g.112088877G>A
SDHD(NM_003002.4):c.180G>A (p.K60=)
-
SDHD_000174
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
?/+
1
3
c.181del
r.(?)
p.(Ala61Leufs*25)
-
-
-
VUS
g.111959602del
g.112088878del
-
-
SDHD_000073
-
DBSubm001
-
-
Unknown
-
-
-
-
-
Janneke Weiss
+/+
1
3
c.184_185insTC
r.(?)
p.(Ala62Valfs*25)
-
-
-
pathogenic
g.111959605_111959606insTC
g.112088881_112088882insTC
-
-
SDHD_000093
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+
1
3
c.188_198del
r.(?)
p.(Ser63Tyrfs*2)
-
-
-
pathogenic
g.111959609_111959619del
g.112088885_112088895del
-
-
SDHD_000108
-
-
-
-
Unknown
-
-
-
-
-
Yang Zha
?/+
1
3
c.191_192del
r.(?)
p.(Leu64Profs*4)
-
-
-
VUS
g.111959612_111959613del
g.112088888_112088889del
c.189_190delTC;
-
SDHD_000013
-
PubMed: Badenhop
,
PubMed: Amar
,
PubMed: Cascon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
3
c.202dup
r.(?)
p.(Ser68Lysfs*46)
-
-
-
VUS
g.111959623dup
g.112088899dup
p.Ser68fs, S68fsX113
-
SDHD_000059
-
PubMed: Amar
,
PubMed: Benn
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
-/., ?/-
5
3
c.204C>T
r.(?)
p.(=), p.(Ser68=)
-
-
-
benign, VUS
g.111959625C>T
g.112088901C>T
p.Ser68Ser, g.7802 C->T (S68S), AGC - >AGT,,
1 more item
-
SDHD_000034
VKGL data sharing initiative Nederland
1 more item
-
-
CLASSIFICATION record, Germline
-
2.8 - 4.4%
-
-
-
Jean-Pierre Bayley
,
VKGL-NL_Leiden
,
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
?/+
1
3
c.206_218del
r.(?)
p.(Glu69Valfs*13)
-
-
-
VUS
g.111959627_111959639del
g.112088903_112088915del
Frameshift
-
SDHD_000089
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/?
1
3
c.208A>G
r.(?)
p.(Arg70Gly)
-
-
-
VUS
g.111959629A>G
g.112088905A>G
g.7806 A ->G (R70G)
-
SDHD_000036
0/50 controls
PubMed: Taschner
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
3
c.209G>C
r.(?)
p.(Arg70Thr)
Deleterious
-
-
VUS
g.111959630G>C
g.112088906G>C
-
-
SDHD_000148
Align GVGD: Class C65
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/+?
1
3
c.209G>T
r.(?)
p.(Arg70Met)
-
-
-
VUS
g.111959630G>T
g.112088906G>T
-
-
SDHD_000071
-
DBSubm001
PubMed: Persu
-
-
Unknown
-
-
-
-
-
Janneke Weiss
+?/+?
1
3
c.210G>T
r.(?)
p.(Arg70Ser)
-
-
-
likely pathogenic
g.111959631G>T
g.112088907G>T
-
-
SDHD_000104
-
PubMed: Cascon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
3
c.224del
r.(?)
p.(Leu75Cysfs*11)
-
-
-
VUS
g.111959645del
g.112088921del
-
-
SDHD_000149
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
+?/?
1
3
c.230T>G
r.(?)
p.(Leu77Arg)
-
-
-
likely pathogenic
g.111959651T>G
g.112088927T>G
-
-
SDHD_000124
-
PubMed: Sevilla
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+
2
3
c.234_243del
r.(?)
p.(Pro81Ilefs*2)
-
-
-
pathogenic
g.111959655_111959664del
g.112088931_112088940del
p.Ile81ProfsX2, p.Pro81fs
-
SDHD_000094
-
PubMed: Neumann
,
PubMed: Sevilla
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+?
1
3
c.236T>G
r.(?)
p.(Leu79Arg)
-
-
-
VUS
g.111959657T>G
g.112088933T>G
-
-
SDHD_000127
-
-
-
-
Unknown
-
-
-
-
-
Kazumasa Isobe
?/.
2
3
c.239T>G
r.(?)
p.(Leu80Arg)
Deleterious
-
ACMG
VUS
g.111959660T>G
g.112088936T>G
-
-
SDHD_000150
Align GVGD: Class C65,
1 more item
PubMed: Buffet
-
-
Germline, Unknown
-
-
-
-
-
Andreas Laner
,
Jean-Pierre Bayley
+/+
1
3
c.241_262del
r.(?)
p.(Pro81Alafs*47)
-
-
-
pathogenic
g.111959662_111959683del
g.112088938_112088959del
-0
-
SDHD_000088
-
PubMed: Persu
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+, +/., +?/., ?/+
4
3
c.242C>T
r.(?)
p.(Pro81Leu)
-
-
-
likely pathogenic (recessive), pathogenic, VUS
g.111959663C>T
g.112088939C>T
CCG->CTG, P81L, c.242C>T
-
SDHD_000003
0/300 controls, ACMG PP5, PM1, PM2, PP2, PP3, PP4, VKGL data sharing initiative Nederland
Journal: Heesterman 2018
,
PubMed: Schuermans 2022
,
1 more item
-
-
CLASSIFICATION record, Germline, Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
,
Jean-Pierre Bayley
,
VKGL-NL_Nijmegen
,
Berdine Heesterman
?/.
1
3
c.242del
r.(?)
p.(Pro81Argfs*5)
-
-
-
VUS
g.111959663del
g.112088939del
-
-
SDHD_000151
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/-
1
3
c.243G>C
r.(?)
p.(=)
-
-
-
VUS
g.111959664G>C
g.112088940G>C
p.Pro81Pro, CCG->CCC (codon 81 Pro->Pro)
-
SDHD_000041
-
PubMed: Hui
-
-
Germline
-
-0
-
-
-
Jean-Pierre Bayley
?/+
1
3
c.252T>G
r.(?)
p.(Tyr84*)
-
-
-
VUS
g.111959673T>G
g.112088949T>G
252T/G Tyr84 ->Stop, Y84X
-
SDHD_000042
-
PubMed: Neumann
,
PubMed: Amar
,
PubMed: Benn
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
3
c.254T>A
r.(?)
p.(Leu85*)
-
-
-
VUS
g.111959675T>A
g.112088951T>A
L85X
-
SDHD_000048
-
PubMed: Amar
,
PubMed: Benn
,
PubMed: Timmers
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/?
1
3
c.259C>T
r.(?)
p.(Pro87Ser)
-
-
-
VUS
g.111959680C>T
g.112088956C>T
-
-
SDHD_000068
-
DBSubm012
-
-
Unknown
-
-
-
-
-
Manuel rey BARRERA
-?/?
1
3
c.260C>A
r.(?)
p.(Pro87His)
-
-
-
likely benign
g.111959681C>A
g.112088957C>A
P87H
-
SDHD_000086
poss UV
PubMed: Klein
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/.
1
3
c.260del
r.(?)
p.(Pro87Leufs*48)
-
-
-
VUS
g.111959681del
g.112088957del
-
-
SDHD_000152
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
+?/+?
1
3
c.264_273del
r.(?)
p.(Cys88Trpfs*44)
-
-
-
likely pathogenic
g.111959685_111959694del
g.112088961_112088970del
c.263_272delCTCTGCGATG / p.Cys88TrpfsX22
-
SDHD_000141
-
PubMed: Piccini
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/?
1
3
c.268G>A
r.(?)
p.(Ala90Thr)
-
-
-
VUS
g.111959689G>A
g.112088965G>A
-
-
SDHD_000043
non-conserved
PubMed: Cascon
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
3
c.271_282del
r.(?)
p.(Met91_Ser94del)
-
-
-
VUS
g.111959692_111959703del
g.112088968_112088979del
Deletion of four amino acids
-
SDHD_000079
-
PubMed: Neumayer
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
+/+, +/.
180
3
c.274G>T
r.(?)
p.(Asp92Tyr)
-
-
-
pathogenic, pathogenic (!)
g.111959695G>T
g.112088971G>T
D92Y, GAC->TAC, Asp92->Tyr, g,7872 G->T, G274T, Codon 92, Asp toTyr, 274G>T/,
1 more item
-
SDHD_000004
VKGL data sharing initiative Nederland,
1 more item
Journal: Heesterman 2018
,
1 more item
-
-
CLASSIFICATION record, Germline, SUMMARY record
-
-
-
-
-
Jean-Pierre Bayley
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
Berdine Heesterman
+/?
1
3
c.274_279del
r.(?)
p.(Asp92_Tyr93del)
-
-
-
pathogenic
g.111959695_111959700del
g.112088971_112088976del
-
-
SDHD_000126
-
-
-
-
Unknown
-
-
-
-
-
Yang Zha
?/.
1
3
c.275_286del
r.(?)
p.(Asp92_Leu95del)
-
-
-
VUS
g.111959696_111959707del
g.112088972_112088983del
-
-
SDHD_000153
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
Jean-Pierre Bayley
?/?
1
3
c.276_278del
r.(?)
p.(Tyr93del)
-
-
-
VUS
g.111959697_111959699del
g.112088973_112088975del
loss of Tyr-93
-
SDHD_000038
-
PubMed: Badenhop
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
3
c.277del
r.(?)
p.(Tyr93Ilefs*42)
-
-
-
VUS
g.111959698del
g.112088974del
Frameshift
-
SDHD_000037
-
PubMed: Dannenberg
,
PubMed: Persu
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/?
1
3
c.278A>G
r.(?)
p.(Tyr93Cys)
-
-
-
VUS
g.111959699A>G
g.112088975A>G
Y93C
-
SDHD_000014
non-conserved, affects Tm2?
PubMed: De Preter
-
-
Germline
-
-
-
-
-
Jean-Pierre Bayley
?/+
1
3
c.279T>G
r.(?)
p.(Tyr93*)
-
-
-
VUS
g.111959700T>G
g.112088976T>G
-
-
SDHD_000053
-
DBSubm001
-
-
Unknown
-
-
-
-
-
Janneke Weiss
-?/.
1
-
c.282C>G
r.(?)
p.(Ser94=)
-
-
-
likely benign
g.111959703C>G
g.112088979C>G
-
-
SDHD_000176
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/+, +/., ?/+
9
3
c.284T>C
r.(?)
p.(Leu95Pro)
-
-
-
pathogenic, VUS
g.111959705T>C
g.112088981T>C
g.7882 T->C, L95P, CTG->CCG, Leu->Pro, SDHD(NM_003002.4):c.284T>C (p.L95P)
-
SDHD_000039
Dutch founder mutation, present in 5 families, 0/50 controls, semi-conserved, affects Tm2?,
1 more item
Journal: Heesterman 2018
,
1 more item
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Jean-Pierre Bayley
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
Berdine Heesterman
?/?
1
3
c.284T>G
r.(?)
p.(Leu95Arg)
-
-
-
VUS
g.111959705T>G
g.112088981T>G
-
-
SDHD_000172
-
Journal: Heesterman 2018
-
-
Germline
-
-
-
-
-
Berdine Heesterman
?/+
1
3
c.287dup
r.(?)
p.(Ala97Cysfs*17)
-
-
-
VUS
g.111959708dup
g.112088984dup
-
-
SDHD_000072
-
DBSubm001
-
-
Unknown
-
-
-
-
-
Janneke Weiss
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