NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000516363.2

Allele description [Variation Report for NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg)]

NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg)

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.1462G>A (p.Gly488Arg)
HGVS:
  • NC_000003.12:g.193645571G>A
  • NG_011605.1:g.57428G>A
  • NM_001354663.2:c.1093G>A
  • NM_001354664.2:c.1090G>A
  • NM_015560.2:c.1462G>A
  • NM_130831.3:c.1354G>A
  • NM_130832.3:c.1408G>A
  • NM_130833.2:c.1465G>A
  • NM_130834.3:c.1516G>A
  • NM_130835.2:c.1519G>A
  • NM_130836.3:c.1573G>A
  • NM_130837.2:c.1627G>A
  • NP_001341592.1:p.Gly365Arg
  • NP_001341593.1:p.Gly364Arg
  • NP_056375.2:p.Gly488Arg
  • NP_570844.1:p.Gly452Arg
  • NP_570845.1:p.Gly470Arg
  • NP_570846.1:p.Gly489Arg
  • NP_570847.2:p.Gly506Arg
  • NP_570848.1:p.Gly507Arg
  • NP_570849.2:p.Gly525Arg
  • NP_570850.2:p.Gly543Arg
  • LRG_337t1:c.1462G>A
  • LRG_337t2:c.1627G>A
  • LRG_337:g.57428G>A
  • LRG_337p1:p.Gly488Arg
  • LRG_337p2:p.Gly543Arg
  • NC_000003.11:g.193363360G>A
  • p.GLY488ARG
Protein change:
G364R
Links:
dbSNP: rs1553878554
NCBI 1000 Genomes Browser:
rs1553878554
Molecular consequence:
  • NM_001354663.2:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.2:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1408G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.2:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.2:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1573G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.2:c.1627G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000614374Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Jan 16, 2020)
unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Reconstitution of the Human Nigro-striatal Pathway on-a-Chip Reveals OPA1-Dependent Mitochondrial Defects and Loss of Dopaminergic Synapses.

Iannielli A, Ugolini GS, Cordiglieri C, Bido S, Rubio A, Colasante G, Valtorta M, Cabassi T, Rasponi M, Broccoli V.

Cell Rep. 2019 Dec 24;29(13):4646-4656.e4. doi: 10.1016/j.celrep.2019.11.111.

PubMed [citation]
PMID:
31875567
PMCID:
PMC6941223

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.

Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M, Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, et al.

Ann Neurol. 2015 Jul;78(1):21-38. doi: 10.1002/ana.24410. Epub 2015 Jun 10.

PubMed [citation]
PMID:
25820230
PMCID:
PMC5008165
See all PubMed Citations (6)

Details of each submission

From Athena Diagnostics Inc, SCV000614374.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Conflicting predictions of the effect on the protein. Located in potentially critical domain of the protein. Statistically associated with disease in a single family.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 6, 2021

Support Center