NM_130837.2(OPA1):c.2816dupA (p.Arg940Alafs) AND Dominant hereditary optic atrophy

Clinical significance:Pathogenic (Last evaluated: Feb 3, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000273669.1

Allele description [Variation Report for NM_130837.2(OPA1):c.2816dupA (p.Arg940Alafs)]

NM_130837.2(OPA1):c.2816dupA (p.Arg940Alafs)

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_130837.2(OPA1):c.2816dupA (p.Arg940Alafs)
HGVS:
  • NC_000003.12:g.193666333dupA
  • NP_056375.2:p.Arg885Alafs
  • NP_570850.2:p.Arg940Alafs
  • LRG_337t1:c.2651dup
  • LRG_337t2:c.2816dup
  • LRG_337:g.78190dup
  • LRG_337p1:p.Arg885Alafs
  • LRG_337p2:p.Arg940Alafs
  • NC_000003.11:g.193384122_193384123insA
  • NC_000003.11:g.193384122dupA
  • NC_000003.12:g.193666333_193666334insA
Links:
dbSNP: rs886043317
NCBI 1000 Genomes Browser:
rs886043317
Molecular consequence:
  • NM_015560.2:c.2651_2652insA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV000339443EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Feb 3, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000339443.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 7, 2019

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