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NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 24, 2020)
Last evaluated:
May 26, 2017
Accession:
VCV000502104.3
Variation ID:
502104
Description:
single nucleotide variant
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NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys)

Allele ID
493528
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193614935 (GRCh38) GRCh38 UCSC
3: 193332724 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_337t1:c.245A>G LRG_337p1:p.Tyr82Cys
LRG_337t2:c.245A>G LRG_337p2:p.Tyr82Cys
LRG_337:g.26792A>G
... more HGVS
Protein change
Y82C
Other names
-
Canonical SPDI
NC_000003.12:193614934:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00004
Links
ClinGen: CA2758956
dbSNP: rs749063844
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 26, 2017 RCV000594887.1
Uncertain significance 1 criteria provided, single submitter Jan 1, 2016 RCV001197081.1
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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
Uncertain significance
(May 26, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000708712.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Abortive cerebellar ataxia
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001367717.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PP3.

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=OPA1 - - - -

Text-mined citations for rs749063844...

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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 08, 2021