NM_015560.2(OPA1):c.557-668G>A AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jun 1, 2019)

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:
RCV000596774.3

Allele description [Variation Report for NM_015560.2(OPA1):c.557-668G>A]

NM_015560.2(OPA1):c.557-668G>A

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.557-668G>A
HGVS:
  • NC_000003.12:g.193618201G>A
  • NG_011605.1:g.30058G>A
  • NM_001354663.2:c.77-668G>A
  • NM_001354664.2:c.185-668G>A
  • NM_015560.2:c.557-668G>A
  • NM_130831.3:c.449-668G>A
  • NM_130832.3:c.502+364G>A
  • NM_130833.2:c.449-668G>A
  • NM_130834.3:c.610+364G>A
  • NM_130835.2:c.502+364G>A
  • NM_130836.3:c.557-668G>A
  • NM_130837.2:c.610+364G>A
  • LRG_337t1:c.557-668G>A
  • LRG_337t2:c.610+364G>A
  • LRG_337:g.30058G>A
  • NC_000003.11:g.193335990G>A
Links:
dbSNP: rs983041061
NCBI 1000 Genomes Browser:
rs983041061
Molecular consequence:
  • NM_001354663.2:c.77-668G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354664.2:c.185-668G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015560.2:c.557-668G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130831.3:c.449-668G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130832.3:c.502+364G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130833.2:c.449-668G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130834.3:c.610+364G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130835.2:c.502+364G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130836.3:c.557-668G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130837.2:c.610+364G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700899EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(May 5, 2017)
germlineclinical testing

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

Citation Link,

SCV001250172CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Jun 1, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schüle R, Züchner S, Schöls L, Wissinger B, Synofzik M.

Brain. 2014 Aug;137(Pt 8):2164-77. doi: 10.1093/brain/awu165. Epub 2014 Jun 25.

PubMed [citation]
PMID:
24970096

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000700899.2

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001250172.6

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

Last Updated: Oct 6, 2021

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