NM_015560.2(OPA1):c.1037G>A (p.Arg346Gln) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Dec 14, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000498233.1

Allele description [Variation Report for NM_015560.2(OPA1):c.1037G>A (p.Arg346Gln)]

NM_015560.2(OPA1):c.1037G>A (p.Arg346Gln)

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.1037G>A (p.Arg346Gln)
HGVS:
  • NC_000003.12:g.193642817G>A
  • NG_011605.1:g.54674G>A
  • NM_001354663.2:c.668G>A
  • NM_001354664.2:c.665G>A
  • NM_015560.2:c.1037G>A
  • NM_130831.3:c.929G>A
  • NM_130832.3:c.983G>A
  • NM_130833.2:c.1040G>A
  • NM_130834.3:c.1091G>A
  • NM_130835.2:c.1094G>A
  • NM_130836.3:c.1148G>A
  • NM_130837.2:c.1202G>A
  • NP_001341592.1:p.Arg223Gln
  • NP_001341593.1:p.Arg222Gln
  • NP_056375.2:p.Arg346Gln
  • NP_570844.1:p.Arg310Gln
  • NP_570845.1:p.Arg328Gln
  • NP_570846.1:p.Arg347Gln
  • NP_570847.2:p.Arg364Gln
  • NP_570848.1:p.Arg365Gln
  • NP_570849.2:p.Arg383Gln
  • NP_570850.2:p.Arg401Gln
  • LRG_337t1:c.1037G>A
  • LRG_337t2:c.1202G>A
  • LRG_337:g.54674G>A
  • LRG_337p1:p.Arg346Gln
  • LRG_337p2:p.Arg401Gln
  • NC_000003.11:g.193360606G>A
Protein change:
R222Q
Links:
dbSNP: rs1180256773
NCBI 1000 Genomes Browser:
rs1180256773
Molecular consequence:
  • NM_001354663.2:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.665G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.2:c.1037G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.929G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.983G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.2:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1091G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.2:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.2:c.1202G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000589716GeneDxcriteria provided, single submitter
Likely pathogenic
(Dec 14, 2015)
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, SCV000589716.3

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

Description

The R346Q variant in the OPA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 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 R346Q 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 that is conserved across species within the dynamin-type G domain, and in silico analysis predicts this variant is damaging to the protein structure/function. The R346Q variant is a strong candidate for a pathogenic variant

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

Last Updated: Feb 27, 2021

Support Center