Global Variome shared LOVD
OPA1 (optic atrophy 1 (autosomal dominant))
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Curator:
Marc Ferre
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Unique variants in gene OPA1
A database from the MITOchondrial DYNamics variation portal.
This database is also one of the
"Eye disease"
gene variant databases.
The variants shown are described using the
NM_130837.2
NM_015560.2
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 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 variant based on clinical consequences, preferably using standardised criteria; e.g. ACMG: 5, pathogenic (dominant) (= disease associated, dominant inheritance), pathogenic (recessive) (= disease associated, recessive inheritance), pathogenic (dominant, reduced risk) (= disease associated, dominant inheritance, incomplete penetrance), likely pathogenic (recessive) (= likely disease associated, recessive inheritance), 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 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
P-domain
: region/domain protein affected
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%)
517 entries on 6 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
ClassClinical
RNA change
Protein
P-domain
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.(2440+1_2441-1))_(2872+1_2873-1)dup
pathogenic
r.?
p.?
-
g.(193376785_193377270)_(193384179_193384958)dup
-
-
-
OPA1_000523
-
PubMed: Chen 2014
-
-
Germline/De novo (untested)
-
-
-
-
-
Thomas FOULONNEAU
-/-?
2
-
c.?
benign
r.(?)
p.(=)
Basic (exons 1-3)
g.?
-
26+12T>G, 27-5C>T
-
OPA1_000148, OPA1_000149
2 more items
PubMed: Han 2006
-
-
Germline
-
-
-
-
-
Marc Ferre
+/+?
1
-
c.(?_-234)_(32+1_33-1)del
pathogenic
r.?
p.?
-
g.(193300000_193310933)_(193311199_193332511)del
-
-
-
OPA1_000461
-
PubMed: Chen 2014
-
-
Germline/De novo (untested)
-
-
-
-
-
Thomas FOULONNEAU
+/+?
1
_1_6i
c.(?_-1)_(678+1_679-1)del
pathogenic
r.0?
p.0?
Basic (exons 1-3)
g.(192802437_193311166)_(193336726_193343880)del
-
del ex1-5
-
OPA1_000266
1 more item
PubMed: Fuhrmann 2009
-
-
Germline
-
-
-
-
-
Marc Ferre
+/+?
1
_1_29i
c.(?_-1)_(2983+1_2984-1)del
pathogenic
r.0?
p.0?
Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)
g.(191677608_193311166)_(193385070_193409851)del
-
del ex1-27
-
OPA1_000268
1 more item
PubMed: Fuhrmann 2009
-
-
Germline
yes
-
-
-
-
Marc Ferre
+/+?
1
_1_31_
c.(?_-1)_(*3211_?)del
pathogenic
r.0?
p.0?
Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)
g.(191677608_193311166)_(193732134_195310989)del
-
del ex1-29, c.1-?_3048+?del
-
OPA1_000270
1 more item
PubMed: Fuhrmann 2009
-
-
Germline
-
-
-
-
-
Marc Ferre
+/+?
1
_30_31_
c.(2983+1_ 2984-1)_(*3212_?)del
pathogenic
r.(?)
p.?
-
g.(193000000_193409851)_(193415602_194000000)del
-
Heterozygous deletion of exons 28 and 29 of OPA1
-
OPA1_000456
-
PubMed: Lynch 2017
-
-
Germline
-
-
-
-
-
Thomas FOULONNEAU
+/+?
7
_1_31, _1_31_
c.0
pathogenic
r.0
p.0
-
g.(192000000_193046853)_(194407385_195000000)del
-
193046853_194407385del, g.193046853_194407385del
-
OPA1_000431
1 more item
PubMed: Biamino 2016
-
-
Germline
yes
-
-
-
-
Thomas FOULONNEAU
+?/?, +/+?
2
1
c.3G>A
likely pathogenic, pathogenic
r.(?), r.?
p.0?, p.?
Basic (exons 1-3)
g.193311169G>A
g.193593380G>A
-
-
OPA1_000348
Mutation in start codon of gene OPA1
Mavrogiannis LA, Charlton RS (unpublished), Amati-Bonneau P, Angers 2011 (unpublished)
-
-
Germline, Germline/De novo (untested)
-
-
BtsCI-, FokI-
-
-
Lampros Mavrogiannis
,
Marc Ferre
+?/?
1
1
c.3G>T
likely pathogenic
r.(?)
p.0?
Basic (exons 1-3)
g.193311169G>T
g.193593380G>T
-
-
OPA1_000328
Mutation in start codon of gene OPA1
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
+/+?
1
1
c.6G>A
pathogenic
r.(?)
p.(Trp2*)
Basic (exons 1-3)
g.193311172G>A
g.193593383G>A
-
-
OPA1_000087
1 more item
PubMed: Pesch 2001
-
-
Germline
-
-
-
-
-
Marc Ferre
+?/?
1
1
c.9_14del
likely pathogenic
r.(?)
p.(Leu4_Arg5del)
-
g.193311175_193311180del
-
-
-
OPA1_000437
-
PubMed: Hayashi 2017
-
-
Germline
-
-
-
-
-
Thomas FOULONNEAU
+/+?
1
1
c.22G>T
pathogenic
r.(?)
p.(Ala8Ser)
Basic (exons 1-3)
g.193311188G>T
g.193593399G>T
-
-
OPA1_000117
1 more item
PubMed: Han 2006
-
-
Germline
-
-
-
-
-
Marc Ferre
+/+?
1
-
c.30del
pathogenic
r.(?)
p.(Cys11Valfs*7)
-
g.193311196del
-
c.30delC
-
OPA1_000462
-
Amati-Bonneau P, Angers 2010 (unpublished)
-
-
Germline/De novo (untested)
-
-
BstNI-, PspGI-, ScrFI-, SfiI-, StyD4I-
-
-
Marc Ferre
?/.
1
1i
c.32+24C>G
VUS
r.(?)
p.(=)
-
g.193311222C>G
g.193593433C>G
-
-
OPA1_000390
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
?/?
1
1i
c.32+87del
VUS
r.(?)
p.?
Non-specific domain
g.193311285del
g.193593496del
-
-
OPA1_000333
-
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
-/-?
1
1i
c.32+97G>A
benign
r.(?)
p.(=)
Basic (exons 1-3)
g.193311295G>A
g.193593506G>A
c.1+97G>A
-
OPA1_000144
1 more item
PubMed: Han 2006
-
-
Germline
-
-
-
-
-
Marc Ferre
+/+?
1
-
c.33T>A
pathogenic
r.(?)
p.(Cys11*)
-
g.193332512T>A
-
-
-
OPA1_000464
-
PubMed: Chen 2014
-
-
Germline/De novo (untested)
-
-
Hpy188I+, BtsIMutI-, TspRI-
-
-
Thomas FOULONNEAU
+/+?
1
-
c.(32+1_33-1)_(351+1_352-1)dup
pathogenic
r.?
p.?
-
g.(193311199_193332511)_(193332831_193333462)dup
-
-
-
OPA1_000463
-
PubMed: Chen 2014
-
-
Germline/De novo (untested)
-
-
-
-
-
Thomas FOULONNEAU
+?/+?
1
1i_3i
c.(32+1_33-1)_(448+1_449-1)del
likely pathogenic
r.spl
p.?
Basic (exons 1-3)
g.(193311199_193332511)_(193333560_193334966)del
-
33-?_448+?del
-
OPA1_000349
-
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
+?/+?
1
1i_29i
c.(32+1_33-1)_(2983+1_2984-1)dup
likely pathogenic
r.?
p.?
Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)
g.(193311199_193332511)_(193385070_193409851)dup
-
33-?_2983+?dup
-
OPA1_000273
1 more item
Mavrogiannis LA, Prescott K, Charlton RS (unpublished)
-
-
Germline
yes
-
-
-
-
Lampros Mavrogiannis
-?/?, +/-?, -/.
3
2
c.43C>A
likely benign, benign
r.(?)
p.(Gln15Lys)
Basic (exons 1-3)
g.193332522C>A
g.193614733C>A
OPA1:c.43C>A (Q15K)
-
OPA1_000318
VKGL data sharing initiative Nederland; correct HGVS to be checked
Mavrogiannis LA, Charlton RS (unpublished), Amati-Bonneau P, (unpublished)
-
-
Germline, Germline/De novo (untested), CLASSIFICATION record
-
-
HpyCH4V+, BsrI-
-
-
Lampros Mavrogiannis
,
Marc Ferre
,
VKGL-NL_Utrecht
+/+?
1
-
c.50T>G
pathogenic
r.(?)
p.(Leu17*)
-
g.193332529T>G
-
-
-
OPA1_000465
-
Amati-Bonneau P, Angers2014 (unpublished)
-
-
Germline/De novo (untested)
-
-
BpuEI+, SmlI+
-
-
Marc Ferre
-?/?, -?/.
2
2
c.70A>G
likely benign
r.(?)
p.(Ile24Val)
Basic (exons 1-3)
g.193332549A>G
g.193614760A>G
OPA1:c.70A>G (I24V)
-
OPA1_000321
VKGL data sharing initiative Nederland; correct HGVS to be checked
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline, CLASSIFICATION record
-
-
-
-
-
Lampros Mavrogiannis
,
VKGL-NL_Utrecht
+/+?
1
-
c.71_73delinsAG
pathogenic
r.(?)
p.(Ile24Lysfs*25)
-
g.193332550_193332552delinsAG
-
-
-
OPA1_000466
-
PubMed: Chen 2014
-
-
Germline/De novo (untested)
-
-
HpyAV+
-
-
Thomas FOULONNEAU
+/+?
1
2
c.91C>T
pathogenic
r.(?)
p.(Gln31*)
-
g.193332570C>T
-
-
-
OPA1_000438
-
PubMed: Ścieżyńska 2017
-
-
Germline
-
-
-
-
-
Thomas FOULONNEAU
?/.
1
-
c.108_125del
VUS
r.(?)
p.(Arg38_Ser43del)
-
g.193332587_193332604del
-
OPA1:c.113_130delGAAGCATTTATCATTCAC (R38_S43del)
-
OPA1_000397
VKGL data sharing initiative Nederland; correct HGVS to be checked
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+?
1
2
c.112C>T
pathogenic
r.(?)
p.(Arg38*)
Basic (exons 1-3)
g.193332591C>T
g.193614802C>T
-
-
OPA1_000236
1 more item
PubMed: Nakamura 2006
-
-
Germline
yes
-
-
-
-
Marc Ferre
+/+?, -/., +?/+?, ?/.
9
2
c.113_130del
pathogenic, benign, likely pathogenic, VUS
r.(?)
p.(Arg38_Ser43del)
Basic (exons 1-3)
g.193332592_193332609del
g.193614803_193614820del
112_139del18, 113_130del18, OPA1:NM_130837.2:c.113_130del (Arg38_Ser43del)
-
OPA1_000082
VKGL data sharing initiative Nederland; correct HGVS to be checked,
1 more item
PubMed: Thiselton 2002
,
PubMed: Tingaud-Sequeira 2017
, Mavrogiannis LA, Charlton RS (unpublished),
1 more item
-
rs761926672
Germline, Germline/De novo (untested), CLASSIFICATION record
-
-
Hpy188III-
-
-
Angelique Caignard
,
Marc Ferre
,
Johan den Dunnen
,
Lampros Mavrogiannis
,
Bjorn Oskarsson
,
Erik-Jan Kamsteeg
,
Bastien Le Roux
,
VKGL-NL_Nijmegen
+/+?
1
-
c.143T>G
pathogenic
r.(?)
p.(Leu48*)
-
g.193332622T>G
-
-
-
OPA1_000467
-
Amati-Bonneau P, Angers 2013 (unpublished)
-
-
Germline/De novo (untested)
-
-
LpnPI+
-
-
Marc Ferre
+/+?
1
2
c.154C>T
pathogenic
r.(?)
p.(Arg52*)
Basic (exons 1-3)
g.193332633C>T
g.193614844C>T
-
-
OPA1_000166
1 more item
PubMed: Ban 2007
-
-
Germline
-
-
-
-
-
Yuriko Ban
+/., +/+?
2
2
c.181C>T
pathogenic
r.(?)
p.(Gln61*)
Basic (exons 1-3)
g.193332660C>T
g.193614871C>T
OPA1:NM_130837.2:c.181C>T (Gln61*)
-
OPA1_000158
VKGL data sharing initiative Nederland; correct HGVS to be checked,
1 more item
PubMed: Nakamura 2006
-
-
CLASSIFICATION record, Germline
yes
-
-
-
-
VKGL-NL_Nijmegen
,
Marc Ferre
+/+?
2
2
c.190del
pathogenic
r.(?)
p.(Ser64Leufs*2)
Basic (exons 1-3), Basic (exon 1-3)
g.193332669del
g.193614880del
-
-
OPA1_000165
1 more item
PubMed: Ferre 2009
-
-
Germline
-
-
-
-
-
Marc Ferre
,
Bastien Le Roux
+?/+?, -/-?
2
-
c.190_194del
likely pathogenic, benign
r.(?)
p.(Ser64Aspfs*7)
-
g.193332669_193332673del
-
-
-
OPA1_000459
-
PubMed: Nasca 2017
-
-
Germline/De novo (untested)
-
-
EarI-,MboII-
-
-
Thomas FOULONNEAU
+/+
2
2
c.224del
pathogenic
r.(?)
p.(Phe75Serfs*19)
-
g.193332703del
-
-
-
OPA1_000423
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
Marc Ferre
,
Bastien Le Roux
+/+?
2
2
c.239A>G
pathogenic
r.(?)
p.(Tyr80Cys)
Basic (exons 1-3)
g.193332718A>G
g.193614929A>G
-
-
OPA1_000139
1 more item
PubMed: Han 2006
-
-
Germline
-
-
-
-
-
Marc Ferre
,
Bastien Le Roux
+/+?
1
-
c.245A>G
pathogenic
r.(?)
p.(Tyr82Cys)
-
g.193332724A>G
-
-
-
OPA1_000468
-
Amati-Bonneau P, Angers 2016 (unpublished)
-
-
Germline/De novo (untested)
-
-
ApeKI+, BbvI+, Cac8I+, Fnu4HI+, MwoI+, TseI+
-
-
Marc Ferre
+/+?
1
2
c.267G>A
pathogenic
r.(?)
p.(Trp89*)
Basic (exons 1-3)
g.193332746G>A
g.193614957G>A
-
-
OPA1_000327
-
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
+/+?
1
2
c.284C>T
pathogenic
r.(?)
p.(Thr95Met)
Basic (exons 1-3)
g.193332763C>T
g.193614974C>T
-
-
OPA1_000167
1 more item
PubMed: Ferre 2009
-
-
Germline
-
-
-
-
-
Marc Ferre
+/+?
2
2
c.305A>G
pathogenic
r.(?)
p.(Tyr102Cys)
Basic (exons 1-3), Basic (exon 1-3)
g.193332784A>G
g.193614995A>G
-
-
OPA1_000218
1 more item
PubMed: Ferre 2009
-
-
Germline
-
-
-
-
-
Marc Ferre
,
Bastien Le Roux
-?/-?, -/-?
2
2
c.321G>A
likely benign, benign
r.(?)
p.(=)
Basic (exons 1-3)
g.193332800G>A
g.193615011G>A
-
-
OPA1_000041
1 more item
PubMed: Pesch 2001
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
,
Marc Ferre
+/+?
2
2
c.344C>T
pathogenic
r.(?)
p.(Ala115Val)
Basic (exons 1-3)
g.193332823C>T
g.193615034C>T
-
-
OPA1_000253
1 more item
PubMed: Yu-Wai-Man 2010
, Amati-Bonneau P, Angers 2017 (unpublished)
-
-
Germline, Germline/De novo (untested)
-
-
HpyCH4III+
-
-
Marc Ferre
+?/+?
1
3
c.356_357del
likely pathogenic
r.(?)
p.(Phe119*)
Basic (exons 1-3)
g.193333467_193333468del
g.193615678_193615679del
-
-
OPA1_000290
-
PubMed: Almind 2012
-
-
Germline
-
-
-
-
-
Angelique Caignard
+/?
1
3
c.357del
pathogenic
r.(?)
p.(Phe119Leufs*7)
Basic (exons 1-3)
g.193333468del
g.193615679del
-
-
OPA1_000323
-
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
+/+?
1
3
c.361C>T
pathogenic
r.(?)
p.(Gln121*)
Basic (exons 1-3)
g.193333472C>T
g.193615683C>T
-
-
OPA1_000168
1 more item
PubMed: Ferre 2009
-
-
Germline
-
-
-
-
-
Marc Ferre
?/.
2
3
c.380C>T
VUS
r.(?)
p.(Pro127Leu)
-
g.193333491C>T
g.193615702C>T
OPA1:c.380C>T (P127L)
-
OPA1_000389
VKGL data sharing initiative Nederland; correct HGVS to be checked
-
-
-
Germline, CLASSIFICATION record
-
-
-
-
-
Andreas Laner
,
VKGL-NL_Rotterdam
-?/?
1
3
c.381G>A
likely benign
r.(?)
p.(=)
Basic (exons 1-3)
g.193333492G>A
g.193615703G>A
-
-
OPA1_000336
-
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
+/+?
1
-
c.419del
pathogenic
r.(?)
p.(Val140Glyfs*24)
-
g.193333530del
-
c.419delT
-
OPA1_000469
-
Amati-Bonneau P, Angers 2012 (unpublished)
-
-
Germline/De novo (untested)
-
-
BslI+
-
-
Marc Ferre
-?/., -/., -/-?
3
3
c.420G>T
likely benign, benign
r.(=), r.(?)
p.(=)
Basic (exons 1-3)
g.193333531G>T
g.193615742G>T
OPA1:c.420G>T (=)
-
OPA1_000042
VKGL data sharing initiative Nederland; correct HGVS to be checked,
1 more item
PubMed: Toomes 2001
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
,
Marc Ferre
+/+?
1
-
c.422G>A
pathogenic
r.(?)
p.(Trp141*)
-
g.193333533G>A
-
-
-
OPA1_000470
-
Amati-Bonneau P, Angers 2015 (unpublished)
-
-
Germline/De novo (untested)
-
-
-
-
-
Marc Ferre
+/+?
1
3i
c.448+1G>C
pathogenic
r.spl
p.?
Basic (exons 1-3)
g.193333560G>C
g.193615771G>C
-
-
OPA1_000076
1 more item
PubMed: Thiselton 2002
-
-
Germline
-
-
-
-
-
Marc Ferre
+/.
1
-
c.448+1G>T
pathogenic
r.spl?
p.?
-
g.193333560G>T
-
OPA1:NM_130837.2:c.448+1G>T
-
OPA1_000418
VKGL data sharing initiative Nederland; correct HGVS to be checked
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/+?
1
3i
c.448+2T>G
pathogenic
r.spl
p.?
Basic (exons 1-3)
g.193333561T>G
g.193615772T>G
-
-
OPA1_000169
1 more item
PubMed: Ferre 2009
-
-
Germline
-
-
-
-
-
Marc Ferre
+/?
1
-
c.449-34dup
pathogenic
r.(?)
p.?
-
g.193334933dup
-
-
-
OPA1_000471
-
PubMed: Li 2017
-
-
Germline/De novo (untested)
-
-
AflII+, MseI+, SmlI+, DdeI-
-
-
Thomas FOULONNEAU
+?/?
1
3i_10i
c.(448+1_449-1)_(1035+1_1036-1)dup
likely pathogenic
r.?
p.?
GTPase (exons 10-17)
g.(193333560_193334966)_(193355071_193355740)dup
-
449-?_1035+?dup
-
OPA1_000279
Large duplication of exons 4-8 (reference: OPA1 transcript variant 1, NM_015560.1) detected by MLPA
Mavrogiannis LA, Robertson L, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
-/., -/-?
2
4
c.473G>A
benign
r.(?)
p.(Ser158Asn)
Non-specific domain
g.193334991G>A
g.193617202G>A
OPA1:NM_130837.2:c.473G>A (Ser158Asn), 473A>G (Asn158Ser)
-
OPA1_000043
VKGL data sharing initiative Nederland; correct HGVS to be checked,
1 more item
PubMed: Toomes 2001
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Nijmegen
,
Marc Ferre
-/-?
1
4
c.478G>C
benign
r.(?)
p.(Glu160Gln)
Non-specific domain
g.193334996G>C
g.193617207G>C
-
-
OPA1_000044
1 more item
PubMed: Toomes 2001
-
-
Germline
-
-
-
-
-
Marc Ferre
-/-?
1
4
c.500C>T
benign
r.(?)
p.(Pro167Leu)
Non-specific domain
g.193335018C>T
g.193617229C>T
-
-
OPA1_000045
1 more item
PubMed: Thiselton 2002
-
-
Germline
-
-
-
-
-
Marc Ferre
-?/-?
1
4
c.534A>G
likely benign
r.(?)
p.(=)
Non-specific domain
g.193335052A>G
g.193617263A>G
-
-
OPA1_000341
-
-
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
-/-?
1
4i
c.556+178G>T
benign
r.(?)
p.(=)
Non-specific domain
g.193335252G>T
g.193617463G>T
-
-
OPA1_000047
1 more item
PubMed: Delettre 2001
-
-
Germline
-
-
-
-
-
Marc Ferre
?/.
1
-
c.592G>A
VUS
r.(?)
p.(Asp198Asn)
-
g.193335608G>A
-
OPA1:c.592G>A (D198N)
-
OPA1_000398
VKGL data sharing initiative Nederland; correct HGVS to be checked
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/+?
4
5i
c.610+360G>A
pathogenic
r.(?)
p.?
Non-specific domain
g.193335986G>A
g.193618197G>A
-
-
OPA1_000283
-
PubMed: Bonifert 2014
-
-
Germline
-
-
-
-
-
Tobias Bonifert
+/+?
4
5i
c.610+364G>A
pathogenic
r.(?)
p.?
Non-specific domain
g.193335990G>A
g.193618201G>A
-
-
OPA1_000282
-
PubMed: Bonifert 2014
-
-
Germline
-
-
-
-
-
Tobias Bonifert
-/., -/-?
2
4i
c.611-19T>C
benign
r.(=), r.(?)
p.(=)
Non-specific domain
g.193336639T>C
g.193618850T>C
OPA1:NM_130837.2:c.611-19T>C (?)
-
OPA1_000046
VKGL data sharing initiative Nederland; correct HGVS to be checked,
1 more item
PubMed: Toomes 2001
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Nijmegen
,
Marc Ferre
-/-?, -/.
2
6
c.629C>T
benign
r.(?)
p.(Ala210Val)
Non-specific domain
g.193336676C>T
g.193618887C>T
OPA1:c.629C>T (A210V)
-
OPA1_000048
VKGL data sharing initiative Nederland; correct HGVS to be checked,
1 more item
PubMed: Pesch 2001
-
-
Germline, CLASSIFICATION record
-
-
-
-
-
Marc Ferre
,
VKGL-NL_Utrecht
+/+?
1
6
c.665_666insACTGGAGAATGTAAAGGGCTTT
pathogenic
r.(?)
p.(His223Leufs*10)
-
g.193336712_193336713insACTGGAGAATGTAAAGGGCTTT
-
-
-
OPA1_000439
-
PubMed: Bolognini 2017
-
-
Germline
-
-
-
-
-
Thomas FOULONNEAU
?/?
1
6i
c.678+1G>T
VUS
r.spl
p.?
Non-specific domain
g.193336726G>T
g.193618937G>T
-
-
OPA1_000358
-
PubMed: Liskova 2016
-
-
Germline
-
-
-
-
-
Lubica Dudakova
+?/?
1
6i
c.678+2T>G
likely pathogenic
r.spl
p.?
Non-specific domain
g.193336727T>G
g.193618938T>G
-
-
OPA1_000330
-
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
-/.
1
-
c.679-8C>T
benign
r.(=)
p.(=)
-
g.193343873C>T
-
OPA1:c.679-8C>T
-
OPA1_000399
VKGL data sharing initiative Nederland; correct HGVS to be checked
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+?
1
7
c.740G>A
pathogenic
r.(?)
p.(Arg247His)
Non-specific domain
g.193343942G>A
g.193626153G>A
-
-
OPA1_000235
1 more item
PubMed: Cornille 2008
-
-
Germline
no
-
-
-
-
Marc Ferre
+/?, -/-?
3
7
c.768C>G
pathogenic, benign
r.(?)
p.(Ser256Arg)
Non-specific domain
g.193343970C>G
g.193626181C>G
-
-
OPA1_000254
Variation in an alternative exon,
2 more items
PubMed: Yu-Wai-Man 2014
,
PubMed: Yu-Wai-Man 2010
-
-
Germline
-
-
-
-
-
Thomas FOULONNEAU
,
Marc Ferre
+?/?, +/+?
2
8
c.794C>A
likely pathogenic, pathogenic
r.(?)
p.(Ser265*)
Non-specific domain
g.193349405C>A
g.193631616C>A
-
-
OPA1_000088
1 more item
PubMed: Pesch 2001
-
-
Germline
-
-
-
-
-
Angelique Caignard
,
Marc Ferre
+/+?
2
8
c.796_799del
pathogenic
r.(?)
p.(Asp266Lysfs*16)
Non-specific domain
g.193349407_193349410del
g.193631618_193631621del
c.631-634del
-
OPA1_000248
1 more item
PubMed: Cohn 2007
, Amati-Bonneau P, Angers 2016 (unpublished)
-
-
Germline, Germline/De novo (untested)
-
-
Hpy188I-
-
-
Marc Ferre
+/+?
1
8
c.799A>T
pathogenic
r.(?)
p.(Lys267*)
Non-specific domain
g.193349410A>T
g.193631621A>T
-
-
OPA1_000337
-
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
+/., +/+?
3
8
c.800_801del
ACMG 5, pathogenic
r.(?)
p.(Lys267Argfs*4)
Non-specific domain
g.193349411_193349412del
g.193631622_193631623del
800_801delAA
-
OPA1_000026
2 more items
PubMed: de Castro-Miró 2016
,
PubMed: Yu-Wai-Man 2010
,
PubMed: Toomes 2001
-
-
Germline
yes
-
-
-
-
Marta de Castro-Miró
,
Marc Ferre
+/+?
1
8
c.800_803del
pathogenic
r.(?)
p.(Lys267Argfs*15)
Non-specific domain
g.193349411_193349414del
g.193631622_193631625del
-
-
OPA1_000010
1 more item
PubMed: Baris 2003
-
-
Germline
-
-
-
-
-
Marc Ferre
+/+?
1
8
c.804_805del
pathogenic
r.(?)
p.(Lys269Asnfs*2)
Non-specific domain
g.193349415_193349416del
g.193631626_193631627del
-
-
OPA1_000263
1 more item
PubMed: Yu-Wai-Man 2010
-
-
Germline
yes
-
-
-
-
Marc Ferre
+/+?
1
8
c.814C>T
pathogenic
r.(?)
p.(Gln272*)
Non-specific domain
g.193349425C>T
g.193631636C>T
-
-
OPA1_000320
-
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
+/+?
1
8
c.830T>C
pathogenic
r.(?)
p.(Leu277Pro)
Non-specific domain
g.193349441T>C
g.193631652T>C
-
-
OPA1_000170
1 more item
PubMed: Ferre 2009
-
-
Germline
-
-
-
-
-
Marc Ferre
-/-?
1
8i
c.844-13T>G
benign
r.(?)
p.(=)
Non-specific domain
g.193353194T>G
g.193635405T>G
NM_015560.1 c.6-13T>G
-
OPA1_000145
1 more item
PubMed: Han 2006
-
-
Germline
-
-
-
-
-
Marc Ferre
?/?
1
9
c.852T>A
VUS
r.(?)
p.(Tyr284*)
-
g.193353215T>A
g.193635426T>A
-
-
OPA1_000307
-
PubMed: Galvez-Ruiz 2013
-
-
Germline
-
-
-
-
-
Angelique Caignard
+/+?
1
9
c.868C>T
pathogenic
r.(?)
p.(Arg290*)
Non-specific domain
g.193353231C>T
g.193635442C>T
-
-
OPA1_000121
1 more item
PubMed: Puomila 2005
-
-
Germline
yes
-
-
-
-
Marc Ferre
?/?
2
9
c.869G>A
VUS
r.(?)
p.(Arg290Gln)
-
g.193353232G>A
-
-
-
OPA1_000400
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline/De novo (untested)
-
-
-
-
-
VKGL-NL_Rotterdam
,
Bastien Le Roux
+/+?
1
9
c.889G>T
pathogenic
r.(?)
p.(Glu297*)
Non-specific domain
g.193353252G>T
g.193635463G>T
-
-
OPA1_000122
1 more item
PubMed: Puomila 2005
-
-
Germline
yes
-
-
-
-
Marc Ferre
+/+?
1
8
c.893T>A
pathogenic
r.(?)
p.(Leu298*)
Non-specific domain
g.193353256T>A
g.193635467T>A
-
-
OPA1_000159
1 more item
PubMed: Ferre 2009
-
-
Germline
-
-
-
-
-
Marc Ferre
+/+?
1
9
c.898A>T
pathogenic
r.(?)
p.(Lys300*)
Non-specific domain
g.193353261A>T
g.193635472A>T
-
-
OPA1_000075
1 more item
PubMed: Thiselton 2002
-
-
Germline
-
-
-
-
-
Marc Ferre
+/+, +/+?
3
9
c.902T>G
pathogenic
r.(?)
p.(Leu301*)
-
g.193353265T>G
-
-
-
OPA1_000426
-
Amati-Bonneau P, Angers 2015 (unpublished)
-
-
Germline/De novo (untested)
-
-
-
-
-
Marc Ferre
,
Bastien Le Roux
+/.
1
-
c.910C>T
pathogenic
r.(?)
p.(Gln304*)
-
g.193353273C>T
-
OPA1:NM_130837.2:c.910C>T (Gln304*)
-
OPA1_000419
VKGL data sharing initiative Nederland; correct HGVS to be checked
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/+?
1
-
c.921_922del
pathogenic
r.(?)
p.(Asp307Glufs*6)
-
g.193353284_193353285del
-
-
-
OPA1_000472
-
Amati-Bonneau P, Angers 2016 (unpublished)
-
-
Germline/De novo (untested)
-
-
-
-
-
Marc Ferre
+/?
1
9
c.943C>T
pathogenic
r.(?)
p.(Leu315Phe)
Non-specific domain
g.193353306C>T
g.193635517C>T
-
-
OPA1_000359
-
PubMed: Liskova 2016
-
-
Germline
-
-
-
-
-
Lubica Dudakova
-/-?
1
9i
c.948+49_948+51del
benign
r.(?)
p.(=)
Non-specific domain
g.193353360_193353362del
g.193635571_193635573del
IVS7del(+49-51)
-
OPA1_000049
1 more item
PubMed: Thiselton 2002
-
-
Germline
-
-
-
-
-
Marc Ferre
+/+?
1
9i
c.949-5_949-4insMK031169.1
pathogenic
r.spl?
p.?
-
g.193354979_193354980insMK031169.1
g.193637190_193637191insMK031169.1
1 more item
-
OPA1_000457
1 more item
PubMed: Gallus 2010
,
PubMed: Pretegiani 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
Thomas FOULONNEAU
?/?
1
9i
c.949-3C>A
VUS
r.spl?
p.?
Non-specific domain
g.193354981C>A
g.193637192C>A
-
-
OPA1_000325
-
Mavrogiannis LA, Charlton RS (unpublished)
-
-
Germline
-
-
-
-
-
Lampros Mavrogiannis
+/+?
1
-
c.949-2A>C
pathogenic
r.spl
p.?
-
g.193354982A>C
-
-
-
OPA1_000473
-
PubMed: Chen 2014
-
-
Germline/De novo (untested)
-
-
FspEI+
-
-
Thomas FOULONNEAU
+/+?, +/?
3
10i
c.949-2A>G
pathogenic
r.spl
p.?, p.(=)
GTPase (exons 10-17)
g.193354982A>G
g.193637193A>G
-
-
OPA1_000361
-
PubMed: Chen 2014
,
PubMed: Liskova 2016
, Amati-Bonneau P, Angers 2012 (unpublished)
-
-
Germline/De novo (untested), Germline
-
-
FspEI+
-
-
Thomas FOULONNEAU
,
Lubica Dudakova
,
Marc Ferre
?/?
1
9i
c.949-2A>T
VUS
r.spl
p.?
-
g.193354982A>T
g.193637193A>T
-
-
OPA1_000308
-
PubMed: Galvez-Ruiz 2013
-
-
Germline
-
-
-
-
-
Angelique Caignard
+/+?
1
9i
c.949-1G>A
pathogenic
r.spl
p.?
Non-specific domain
g.193354983G>A
g.193637194G>A
-
-
OPA1_000173
1 more item
PubMed: Ferre 2009
-
-
Germline
-
-
-
-
-
Marc Ferre
+/?
1
10i
c.949-1G>C
pathogenic
r.spl
p.?
GTPase (exons 10-17)
g.193354983G>C
g.193637194G>C
-
-
OPA1_000360
-
PubMed: Liskova 2016
-
-
Germline
-
-
-
-
-
Lubica Dudakova
+/+?
1
9i
c.949-1G>T
pathogenic
r.spl?
p.?
-
g.193354983G>T
-
-
-
OPA1_000452
-
PubMed: Kamakari 2014
-
-
Germline
-
-
-
-
-
Thomas FOULONNEAU
+/+?
5
10
c.959_962del
pathogenic
r.(?)
p.(Ile320Thrfs*42)
GTPase (exon 10-17), GTPase (exons 10-17)
g.193354994_193354997del
g.193637205_193637208del
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OPA1_000027
1 more item
PubMed: Toomes 2001
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Germline
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Bastien Le Roux
,
Marc Ferre
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