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NM_130837.3(OPA1):c.3010del (p.Asp1005fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 30, 2020)
Last evaluated:
Sep 11, 2020
Accession:
VCV000994701.2
Variation ID:
994701
Description:
1bp deletion
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NM_130837.3(OPA1):c.3010del (p.Asp1005fs)

Allele ID
982496
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193692089 (GRCh38) GRCh38 UCSC
3: 193409878 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.193409878del
NC_000003.12:g.193692089del
NG_011605.1:g.103946del
... more HGVS
Protein change
D1005fs, D826fs, D827fs, D914fs, D932fs, D950fs, D951fs, D968fs, D969fs, D987fs
Other names
-
Canonical SPDI
NC_000003.12:193692088:C:
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 Sep 11, 2020 RCV001288318.2
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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
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475337.2
Submitted: (Dec 30, 2020)
Evidence details
Comment:
This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).

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 Sep 18, 2021