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NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 23, 2018)
Last evaluated:
Nov 30, 2016
Accession:
VCV000425319.1
Variation ID:
425319
Description:
single nucleotide variant
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NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg)

Allele ID
413653
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193659560 (GRCh38) GRCh38 UCSC
3: 193377349 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.193377349A>G
NC_000003.12:g.193659560A>G
NM_001354663.2:c.1985A>G NP_001341592.1:p.Gln662Arg missense
... more HGVS
Protein change
Q785R, Q840R, Q661R, Q803R, Q749R, Q786R, Q804R, Q662R, Q767R, Q822R
Other names
-
Canonical SPDI
NC_000003.12:193659559:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16621812
dbSNP: rs1064797302
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 Nov 30, 2016 RCV000488050.1
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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
(Nov 30, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000575384.5
Submitted: (Oct 23, 2018)
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 rs1064797302...

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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 Feb 25, 2021