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NM_130837.3(OPA1):c.1734dup (p.Gln579fs) AND Autosomal dominant optic atrophy classic form

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jul 11, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001253086.5

Allele description [Variation Report for NM_130837.3(OPA1):c.1734dup (p.Gln579fs)]

NM_130837.3(OPA1):c.1734dup (p.Gln579fs)

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.1734dup (p.Gln579fs)
HGVS:
  • NC_000003.12:g.193645780dup
  • NG_011605.1:g.57637dup
  • NM_001354663.2:c.1200dup
  • NM_001354664.2:c.1197dup
  • NM_015560.3:c.1569dup
  • NM_130831.3:c.1461dup
  • NM_130832.3:c.1515dup
  • NM_130833.3:c.1572dup
  • NM_130834.3:c.1623dup
  • NM_130835.3:c.1626dup
  • NM_130836.3:c.1680dup
  • NM_130837.3:c.1734dupMANE SELECT
  • NP_001341592.1:p.Gln401fs
  • NP_001341593.1:p.Gln400fs
  • NP_056375.2:p.Gln524fs
  • NP_570844.1:p.Gln488fs
  • NP_570845.1:p.Gln506fs
  • NP_570846.1:p.Gln525fs
  • NP_570847.2:p.Gln542fs
  • NP_570848.1:p.Gln543fs
  • NP_570849.2:p.Gln561fs
  • NP_570850.2:p.Gln579fs
  • LRG_337t1:c.1569dup
  • LRG_337:g.57637dup
  • NC_000003.11:g.193363569dup
  • NM_015560.2:c.1569dup
Protein change:
Q400fs
Links:
dbSNP: rs1560377736
NCBI 1000 Genomes Browser:
rs1560377736
Molecular consequence:
  • NM_001354663.2:c.1200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354664.2:c.1197dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015560.3:c.1569dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130831.3:c.1461dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130832.3:c.1515dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130833.3:c.1572dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130834.3:c.1623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130835.3:c.1626dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130836.3:c.1680dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130837.3:c.1734dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Name:
Autosomal dominant optic atrophy classic form (OPA1)
Synonyms:
Optic atrophy, juvenile; Kjer-type optic atrophy; Optic Atrophy Type 1
Identifiers:
MONDO: MONDO:0008134; MedGen: C0338508; Orphanet: 98673; OMIM: 165500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001428613Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 25, 2017) 		germlineclinical testing

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

SCV002764814Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(May 19, 2021) 		germlineclinical testing

Citation Link,

SCV004012084Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 11, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001428613.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764814.1

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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV004012084.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024