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NM_025136.4(OPA3):c.100dup (p.Ser34fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Mar 29, 2018
Accession:
VCV000557484.1
Variation ID:
557484
Description:
1bp duplication
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NM_025136.4(OPA3):c.100dup (p.Ser34fs)

Allele ID
548848
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
19q13.32
Genomic location
19: 45584664-45584665 (GRCh38) GRCh38 UCSC
19: 46087922-46087923 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_025136.3:c.100dupA
NC_000019.10:g.45584666dup
NC_000019.9:g.46087924dup
... more HGVS
Protein change
S34fs
Other names
-
Canonical SPDI
NC_000019.10:45584664:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555736803
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 29, 2018 RCV000673633.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OPA3 - - GRCh38
GRCh37
359 372

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 29, 2018)
criteria provided, single submitter
Method: clinical testing
3-Methylglutaconic aciduria type 3
Allele origin: unknown
Counsyl
Accession: SCV000798860.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Huizing M Molecular genetics and metabolism 2010 PMID: 20350831

Text-mined citations for rs1555736803...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021