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NM_015560.2(OPA1):c.2386G>T (p.Glu796Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 4, 2021)
Last evaluated:
Jun 1, 2017
Accession:
VCV000444624.8
Variation ID:
444624
Description:
single nucleotide variant
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NM_015560.2(OPA1):c.2386G>T (p.Glu796Ter)

Allele ID
438264
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193380641 (GRCh37) GRCh37 UCSC
3: 193662852 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_337:g.74709G>T
LRG_337t1:c.2386G>T LRG_337p1:p.Glu796Ter
LRG_337t2:c.2551G>T LRG_337p2:p.Glu851Ter
... more HGVS
Protein change
E796*, E851*, E814*, E672*, E778*, E815*, E673*, E760*, E797*, E833*
Other names
-
Canonical SPDI
NC_000003.12:193662851:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA355793069
dbSNP: rs1553786499
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 Jun 1, 2017 RCV000512693.3
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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
- -

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000609127.11
Submitted: (Jul 04, 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.

Text-mined citations for rs1553786499...

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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 Oct 07, 2021