NM_130837.3(OPA1):c.164dup (p.Leu55fs) AND Autosomal dominant optic atrophy classic form

Clinical significance:Likely pathogenic (Last evaluated: Jan 19, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001291943.1

Allele description [Variation Report for NM_130837.3(OPA1):c.164dup (p.Leu55fs)]

NM_130837.3(OPA1):c.164dup (p.Leu55fs)

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_130837.3(OPA1):c.164dup (p.Leu55fs)
HGVS:
  • NC_000003.12:g.193614854dup
  • NG_011605.1:g.26711dup
  • NM_001354663.2:c.-209dup
  • NM_001354664.2:c.-209dup
  • NM_015560.3:c.164dup
  • NM_130831.3:c.164dup
  • NM_130832.3:c.164dup
  • NM_130833.3:c.164dup
  • NM_130834.3:c.164dup
  • NM_130835.3:c.164dup
  • NM_130836.3:c.164dup
  • NM_130837.3:c.164dupMANE SELECT
  • NP_056375.2:p.Leu55fs
  • NP_570844.1:p.Leu55fs
  • NP_570845.1:p.Leu55fs
  • NP_570846.1:p.Leu55fs
  • NP_570847.2:p.Leu55fs
  • NP_570848.1:p.Leu55fs
  • NP_570849.2:p.Leu55fs
  • NP_570850.2:p.Leu55fs
  • LRG_337:g.26711dup
  • NC_000003.11:g.193332643dup
  • NM_015560.3:c.164dupT
Protein change:
L55fs
Molecular consequence:
  • NM_001354663.2:c.-209dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354664.2:c.-209dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_015560.3:c.164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130831.3:c.164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130832.3:c.164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130833.3:c.164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130834.3:c.164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130835.3:c.164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130836.3:c.164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130837.3:c.164dup - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
protein truncation [Variation Ontology: 0015]
Observations:
1

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
SCV001480493HSP Biomedical Diagnostics Department,Hospital San Pedrono assertion criteria providedLikely pathogenic
(Jan 19, 2021)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From HSP Biomedical Diagnostics Department,Hospital San Pedro, SCV001480493.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided

Description

The p.Leu55PhefsTer18 variant is not previously described. This variant generates a stop codon at exon 2 and is likely to alter the biological function of the protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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