NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) AND Dominant hereditary optic atrophy

Clinical significance:Likely pathogenic (Last evaluated: Oct 30, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000199194.1

Allele description [Variation Report for NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter)]

NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter)

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.2131C>T (p.Arg711Ter)
HGVS:
  • NC_000003.12:g.193657197C>T
  • NG_011605.1:g.69054C>T
  • NM_015560.2:c.2131C>T
  • NM_130837.2:c.2296C>T
  • NP_056375.2:p.Arg711Ter
  • NP_570850.2:p.Arg766Ter
  • LRG_337t1:c.2131C>T
  • LRG_337t2:c.2296C>T
  • LRG_337:g.69054C>T
  • LRG_337p1:p.Arg711Ter
  • LRG_337p2:p.Arg766Ter
  • NC_000003.11:g.193374986C>T
  • p.Arg766*
Protein change:
R711*
Links:
dbSNP: rs863224906
NCBI 1000 Genomes Browser:
rs863224906
Molecular consequence:
  • NM_015560.2:c.2131C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Dominant hereditary optic atrophy (OPA1)
Synonyms:
Optic Atrophy, Autosomal Dominant; Optic Atrophy Type 1
Identifiers:
MedGen: C0338508; Orphanet: 98673; OMIM: 165500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000255432UCLA Clinical Genomics Center, UCLA - CEScriteria provided, single submitter
Likely pathogenic
(Oct 30, 2012)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Middle Easterngermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]
PMID:
25326637
PMCID:
PMC4278636

Details of each submission

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255432.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Middle Easternnot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 7, 2019

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