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NM_130837.3(OPA1):c.1481G>T (p.Gly494Val) AND Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2008
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000023416.3

Allele description [Variation Report for NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)]

NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)
HGVS:
  • NC_000003.12:g.193643978G>T
  • NG_011605.1:g.55835G>T
  • NM_001354663.2:c.947G>T
  • NM_001354664.2:c.944G>T
  • NM_015560.3:c.1316G>T
  • NM_130831.3:c.1208G>T
  • NM_130832.3:c.1262G>T
  • NM_130833.3:c.1319G>T
  • NM_130834.3:c.1370G>T
  • NM_130835.3:c.1373G>T
  • NM_130836.3:c.1427G>T
  • NM_130837.3:c.1481G>TMANE SELECT
  • NP_001341592.1:p.Gly316Val
  • NP_001341593.1:p.Gly315Val
  • NP_056375.2:p.Gly439Val
  • NP_570844.1:p.Gly403Val
  • NP_570845.1:p.Gly421Val
  • NP_570846.1:p.Gly440Val
  • NP_570847.2:p.Gly457Val
  • NP_570848.1:p.Gly458Val
  • NP_570849.2:p.Gly476Val
  • NP_570850.2:p.Gly494Val
  • LRG_337:g.55835G>T
  • NC_000003.11:g.193361767G>T
  • O60313:p.Gly439Val
Protein change:
G315V; GLY439VAL
Links:
UniProtKB: O60313#VAR_072127; OMIM: 605290.0016; dbSNP: rs387906900
NCBI 1000 Genomes Browser:
rs387906900
Molecular consequence:
  • NM_001354663.2:c.947G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.944G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.3:c.1316G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1208G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1262G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.1319G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1370G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.1373G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1427G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.1481G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Identifiers:
MONDO: MONDO:0007429; MedGen: C3276549; OMIM: 125250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044707OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, et al.

Brain. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24.

PubMed [citation]
PMID:
18158317

Details of each submission

From OMIM, SCV000044707.2

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

Description

In an Italian man with optic atrophy, deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (125250), Amati-Bonneau et al. (2008) identified a heterozygous 1316G-T transversion in exon 14 of the OPA1 gene, resulting in a gly439-to-val (G439V) substitution in the GTPase domain. His 7-year-old daughter also carried the G439V mutation and had optic atrophy and deafness. The mutation was not identified in 460 control chromosomes.

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

Last Updated: Sep 29, 2024