NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 16, 2015)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000081775.5

Allele description [Variation Report for NM_015560.2(OPA1):c.983A>G (p.Lys328Arg)]

NM_015560.2(OPA1):c.983A>G (p.Lys328Arg)

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.983A>G (p.Lys328Arg)
HGVS:
  • NC_000003.12:g.193638064A>G
  • NG_011605.1:g.49921A>G
  • NM_015560.2:c.983A>G
  • NM_130837.2:c.1148A>G
  • NP_056375.2:p.Lys328Arg
  • NP_570850.2:p.Lys383Arg
  • LRG_337t1:c.983A>G
  • LRG_337t2:c.1148A>G
  • LRG_337:g.49921A>G
  • LRG_337p1:p.Lys328Arg
  • LRG_337p2:p.Lys383Arg
  • NC_000003.11:g.193355853A>G
  • p.K328R
  • p.LYS328ARG
Protein change:
K328R
Links:
dbSNP: rs398124303
NCBI 1000 Genomes Browser:
rs398124303
Molecular consequence:
  • NM_015560.2:c.983A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000251992GeneDxcriteria provided, single submitter
Pathogenic
(Dec 13, 2012)
germlineclinical testing

Citation Link,

SCV000614395Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Jun 16, 2015)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

Almind GJ, Ek J, Rosenberg T, Eiberg H, Larsen M, Lucamp L, Brøndum-Nielsen K, Grønskov K.

BMC Med Genet. 2012 Aug 2;13:65. doi: 10.1186/1471-2350-13-65.

PubMed [citation]
PMID:
22857269
PMCID:
PMC3507804

Sensorineural hearing loss in OPA1-linked disorders.

Leruez S, Milea D, Defoort-Dhellemmes S, Colin E, Crochet M, Procaccio V, Ferré M, Lamblin J, Drouin V, Vincent-Delorme C, Lenaers G, Hamel C, Blanchet C, Juul G, Larsen M, Verny C, Reynier P, Amati-Bonneau P, Bonneau D.

Brain. 2013 Jul;136(Pt 7):e236. doi: 10.1093/brain/aws340. Epub 2013 Feb 4. No abstract available.

PubMed [citation]
PMID:
23384603
See all PubMed Citations (7)

Details of each submission

From GeneDx, SCV000251992.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Lys328Arg (AAG>AGG): c.983 A>G in exon 9 of the OPA1 gene (NM_015560.2)The c.983 A>G mutation in the OPA1 gene has been previously reported in association with autosomal dominant optic atrophy (Baris et al., 2003). This mutation occurs at the second to last nucleotide of exon 9, modifies the consensus splice donor site in intron 9, and causes abnormal gene splicing by RT-PCR analysis (Baris et al., 2003). The variant is found in OAPEO-MITOP,MITO24OPA1 panel(s).

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

From Athena Diagnostics Inc, SCV000614395.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2019

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