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NM_130837.3(OPA1):c.2142del (p.Gln714fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 29, 2021)
Last evaluated:
Feb 19, 2021
Accession:
VCV001065345.1
Variation ID:
1065345
Description:
1bp deletion
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NM_130837.3(OPA1):c.2142del (p.Gln714fs)

Allele ID
1053642
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193654991 (GRCh38) GRCh38 UCSC
3: 193372780 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.193372780del
NC_000003.12:g.193654991del
NM_130837.3:c.2142del MANE Select NP_570850.2:p.Gln714fs frameshift
... more HGVS
Protein change
Q535fs, Q536fs, Q623fs, Q641fs, Q659fs, Q660fs, Q677fs, Q678fs, Q696fs, Q714fs
Other names
-
Canonical SPDI
NC_000003.12:193654990:G:
Functional consequence
-
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 criteria provided, single submitter Feb 19, 2021 RCV001375870.1
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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
(Feb 19, 2021)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant optic atrophy classic form
Allele origin: germline
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
Accession: SCV001572798.1
Submitted: (Apr 29, 2021)
Evidence details

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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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 May 04, 2021