NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) AND Autosomal dominant optic atrophy classic form

Clinical significance:Pathogenic (Last evaluated: Aug 10, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000005389.6

Allele description [Variation Report for NM_015560.2(OPA1):c.869G>A (p.Arg290Gln)]

NM_015560.2(OPA1):c.869G>A (p.Arg290Gln)

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.869G>A (p.Arg290Gln)
Other names:
R290Q
HGVS:
  • NC_000003.12:g.193637280G>A
  • NG_011605.1:g.49137G>A
  • NM_001354663.2:c.500G>A
  • NM_001354664.2:c.497G>A
  • NM_015560.2:c.869G>A
  • NM_130831.3:c.761G>A
  • NM_130832.3:c.815G>A
  • NM_130833.2:c.872G>A
  • NM_130834.3:c.923G>A
  • NM_130835.2:c.926G>A
  • NM_130836.3:c.980G>A
  • NM_130837.2:c.1034G>A
  • NP_001341592.1:p.Arg167Gln
  • NP_001341593.1:p.Arg166Gln
  • NP_056375.2:p.Arg290Gln
  • NP_056375.2:p.Arg290Gln
  • NP_570844.1:p.Arg254Gln
  • NP_570845.1:p.Arg272Gln
  • NP_570846.1:p.Arg291Gln
  • NP_570847.2:p.Arg308Gln
  • NP_570848.1:p.Arg309Gln
  • NP_570849.2:p.Arg327Gln
  • NP_570850.2:p.Arg345Gln
  • LRG_337t1:c.869G>A
  • LRG_337t2:c.1034G>A
  • LRG_337:g.49137G>A
  • LRG_337p1:p.Arg290Gln
  • LRG_337p2:p.Arg345Gln
  • NC_000003.11:g.193355069G>A
  • O60313:p.Arg290Gln
Protein change:
R166Q; ARG290GLN
Links:
UniProtKB: O60313#VAR_011483; OMIM: 605290.0005; dbSNP: rs121908375
NCBI 1000 Genomes Browser:
rs121908375
Molecular consequence:
  • NM_001354663.2:c.500G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.2:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.761G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.815G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.2:c.872G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.923G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.2:c.926G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.980G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant optic atrophy classic form (OPA1)
Synonyms:
Optic atrophy, juvenile; Kjer-type optic atrophy; Optic Atrophy, Autosomal Dominant; See all synonyms [MedGen]
Identifiers:
MedGen: C0338508; Orphanet: 98673; OMIM: 165500

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
SCV000025569OMIMno assertion criteria providedPathogenic
(Oct 1, 2000)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV001976724Laboratory of Medical Genetics, National & Kapodistrian University of Athenscriteria provided, single submitter
Pathogenic
(Aug 10, 2021)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B.

Nat Genet. 2000 Oct;26(2):211-5.

PubMed [citation]
PMID:
11017080

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.

Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J.

Am J Med Genet A. 2021 Aug;185(8):2561-2571. doi: 10.1002/ajmg.a.62338. Epub 2021 May 19.

PubMed [citation]
PMID:
34008892
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000025569.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family from Cuba, Alexander et al. (2000) demonstrated that members with autosomal dominant optic atrophy (165500) had a G-to-A transition of nucleotide 869 in exon 8 of the OPA1 gene, predicting an arg290-to-gln amino acid change.

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

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV001976724.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

PS3, PM1, PM2, PM5, PP2, PP3, PP5

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

Last Updated: Oct 16, 2021

Support Center