NM_002693.2(POLG):c.3612_3613insAACT (p.Gly1205Asnfs) AND Cerebellar ataxia infantile with progressive external ophthalmoplegia

Clinical significance:Pathogenic (Last evaluated: Feb 8, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000290739.1

Allele description [Variation Report for NM_002693.2(POLG):c.3612_3613insAACT (p.Gly1205Asnfs)]

NM_002693.2(POLG):c.3612_3613insAACT (p.Gly1205Asnfs)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.3612_3613insAACT (p.Gly1205Asnfs)
HGVS:
  • NC_000015.10:g.89317406_89317407insAGTT
  • NG_008218.2:g.22389_22390insAACT
  • NM_002693.2:c.3612_3613insAACT
  • NP_002684.1:p.Gly1205Asnfs
  • LRG_765t1:c.3612_3613insAACT
  • LRG_765:g.22389_22390insAACT
  • LRG_765p1:p.Gly1205Asnfs
  • NC_000015.9:g.89860637_89860638insAGTT
Links:
dbSNP: rs886043241
NCBI 1000 Genomes Browser:
rs886043241
Molecular consequence:
  • NM_002693.2:c.3612_3613insAACT - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Cerebellar ataxia infantile with progressive external ophthalmoplegia (PEOB1)
Synonyms:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1; Autosomal Recessive Progressive External Ophthalmoplegia
Identifiers:
MedGen: C4225153; Orphanet: 254886; OMIM: 258450

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000339077EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Feb 8, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000339077.2

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

Last Updated: Mar 30, 2019

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