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NM_130837.3(OPA1):c.164dup (p.Leu55fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 19, 2021)
Last evaluated:
Jan 19, 2021
Accession:
VCV000997031.1
Variation ID:
997031
Description:
1bp duplication
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NM_130837.3(OPA1):c.164dup (p.Leu55fs)

Allele ID
984743
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193614852-193614853 (GRCh38) GRCh38 UCSC
3: 193332641-193332642 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.193332643dup
NC_000003.12:g.193614854dup
NM_130837.3:c.164dup MANE Select NP_570850.2:p.Leu55fs frameshift
... more HGVS
Protein change
L55fs
Other names
-
Canonical SPDI
NC_000003.12:193614852:TT:TTT
Functional consequence
protein truncation [Variation Ontology VariO:0015]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 no assertion criteria provided Jan 19, 2021 RCV001291943.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OPA1 - - GRCh38
GRCh37
498 564

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 19, 2021)
no assertion criteria provided
Method: clinical testing
Autosomal dominant optic atrophy classic form
(Autosomal dominant inheritance)
Allele origin: unknown
HSP Biomedical Diagnostics Department,Hospital San Pedro
Accession: SCV001480493.1
Submitted: (Feb 19, 2021)
Evidence details
Comment:
The p.Leu55PhefsTer18 variant is not previously described. This variant generates a stop codon at exon 2 and is likely to alter the biological function of … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
protein truncation
HSP Biomedical Diagnostics Department,Hospital San Pedro
Accession: SCV001480493.1
Submitted: (Feb 19, 2021)
Evidence details

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Apr 08, 2021