NM_025136.4(OPA3):c.100dup (p.Ser34fs) AND 3-Methylglutaconic aciduria type 3

Clinical significance:Likely pathogenic (Last evaluated: Mar 29, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673633.1

Allele description [Variation Report for NM_025136.4(OPA3):c.100dup (p.Ser34fs)]

NM_025136.4(OPA3):c.100dup (p.Ser34fs)

Gene:
OPA3:outer mitochondrial membrane lipid metabolism regulator OPA3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_025136.4(OPA3):c.100dup (p.Ser34fs)
HGVS:
  • NC_000019.10:g.45584666dup
  • NG_013332.1:g.5200dup
  • NM_001017989.3:c.100dup
  • NM_025136.4:c.100dupMANE SELECT
  • NP_001017989.2:p.Ser34fs
  • NP_079412.1:p.Ser34fs
  • NC_000019.9:g.46087924dup
  • NM_025136.3:c.100dupA
Protein change:
S34fs
Links:
dbSNP: rs1555736803
NCBI 1000 Genomes Browser:
rs1555736803
Molecular consequence:
  • NM_001017989.3:c.100dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_025136.4:c.100dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
3-Methylglutaconic aciduria type 3 (MGCA3)
Synonyms:
OPA3, AUTOSOMAL RECESSIVE; OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE; 3-methylglutaconic aciduria type III; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009787; MedGen: C0574084; Orphanet: 67047; OMIM: 258501

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000798860Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 29, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.

Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y.

Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16.

PubMed [citation]
PMID:
20350831
PMCID:
PMC2872056

Details of each submission

From Counsyl, SCV000798860.1

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

Last Updated: Nov 27, 2021

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