NM_015560.2(OPA1):c.1097G>A (p.Arg366Gln) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000442276.1

Allele description [Variation Report for NM_015560.2(OPA1):c.1097G>A (p.Arg366Gln)]

NM_015560.2(OPA1):c.1097G>A (p.Arg366Gln)

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_015560.2(OPA1):c.1097G>A (p.Arg366Gln)
HGVS:
  • NC_000003.12:g.193643006G>A
  • NG_011605.1:g.54863G>A
  • NM_001354663.2:c.728G>A
  • NM_001354664.2:c.725G>A
  • NM_015560.2:c.1097G>A
  • NM_130831.3:c.989G>A
  • NM_130832.3:c.1043G>A
  • NM_130833.2:c.1100G>A
  • NM_130834.3:c.1151G>A
  • NM_130835.2:c.1154G>A
  • NM_130836.3:c.1208G>A
  • NM_130837.2:c.1262G>A
  • NP_001341592.1:p.Arg243Gln
  • NP_001341593.1:p.Arg242Gln
  • NP_056375.2:p.Arg366Gln
  • NP_570844.1:p.Arg330Gln
  • NP_570845.1:p.Arg348Gln
  • NP_570846.1:p.Arg367Gln
  • NP_570847.2:p.Arg384Gln
  • NP_570848.1:p.Arg385Gln
  • NP_570849.2:p.Arg403Gln
  • NP_570850.2:p.Arg421Gln
  • LRG_337t1:c.1097G>A
  • LRG_337t2:c.1262G>A
  • LRG_337:g.54863G>A
  • LRG_337p1:p.Arg366Gln
  • LRG_337p2:p.Arg421Gln
  • NC_000003.11:g.193360795G>A
Protein change:
R242Q
Links:
dbSNP: rs535885178
NCBI 1000 Genomes Browser:
rs535885178
Molecular consequence:
  • NM_001354663.2:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.2:c.1097G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.989G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1043G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.2:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1208G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.2:c.1262G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000519056GeneDxcriteria provided, single submitter
Likely pathogenic
(Jan 16, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000519056.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R366Q variant in the OPA1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R366Q variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R366Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position within the Dynamin-type G domain that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R366Q as a likely pathogenic variant; however, the possibility that this is a rare benign variant cannot be completely excluded.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 27, 2021

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