NM_015560.2(OPA1):c.1289A>T (p.Asn430Ile) AND Autosomal dominant optic atrophy classic form

Clinical significance:Likely pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000987380.1

Allele description [Variation Report for NM_015560.2(OPA1):c.1289A>T (p.Asn430Ile)]

NM_015560.2(OPA1):c.1289A>T (p.Asn430Ile)

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.1289A>T (p.Asn430Ile)
HGVS:
  • NC_000003.12:g.193643604A>T
  • NG_011605.1:g.55461A>T
  • NM_001354663.2:c.920A>T
  • NM_001354664.2:c.917A>T
  • NM_015560.2:c.1289A>T
  • NM_130831.3:c.1181A>T
  • NM_130832.3:c.1235A>T
  • NM_130833.2:c.1292A>T
  • NM_130834.3:c.1343A>T
  • NM_130835.2:c.1346A>T
  • NM_130836.3:c.1400A>T
  • NM_130837.2:c.1454A>T
  • NP_001341592.1:p.Asn307Ile
  • NP_001341593.1:p.Asn306Ile
  • NP_056375.2:p.Asn430Ile
  • NP_570844.1:p.Asn394Ile
  • NP_570845.1:p.Asn412Ile
  • NP_570846.1:p.Asn431Ile
  • NP_570847.2:p.Asn448Ile
  • NP_570848.1:p.Asn449Ile
  • NP_570849.2:p.Asn467Ile
  • NP_570850.2:p.Asn485Ile
  • LRG_337t1:c.1289A>T
  • LRG_337t2:c.1454A>T
  • LRG_337:g.55461A>T
  • LRG_337p1:p.Asn430Ile
  • LRG_337p2:p.Asn485Ile
  • NC_000003.11:g.193361393A>T
Protein change:
N306I
Links:
dbSNP: rs1577243012
NCBI 1000 Genomes Browser:
rs1577243012
Molecular consequence:
  • NM_001354663.2:c.920A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.917A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.2:c.1289A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1181A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1235A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.2:c.1292A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1343A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.2:c.1346A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1400A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.2:c.1454A>T - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001136664Mendelicscriteria provided, single submitter
Likely pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001136664.1

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

Last Updated: Apr 12, 2021

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