NM_007215.4(POLG2):c.1191+6dup AND Progressive external ophthalmoplegia with mitochondrial DNA deletions

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000341060.5

Allele description [Variation Report for NM_007215.4(POLG2):c.1191+6dup]

NM_007215.4(POLG2):c.1191+6dup

Genes:
POLG2:DNA polymerase gamma 2, accessory subunit [Gene - OMIM - HGNC]
MILR1:mast cell immunoglobulin like receptor 1 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_007215.4(POLG2):c.1191+6dup
HGVS:
  • NC_000017.11:g.64482913dup
  • NG_013029.1:g.19156dup
  • NM_007215.4:c.1191+6dupMANE SELECT
  • NC_000017.10:g.62479028_62479029insA
  • NC_000017.10:g.62479030dup
  • NM_007215.3:c.1191+7dupT
  • NM_007215.4:c.1191+7dupMANE SELECT
Links:
dbSNP: rs60611997
NCBI 1000 Genomes Browser:
rs60611997
Molecular consequence:
  • NM_007215.4:c.1191+6dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Progressive external ophthalmoplegia with mitochondrial DNA deletions
Identifiers:
MONDO: MONDO:0000090; MedGen: CN294859; OMIM: PS157640

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000405423Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000405423.2

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

Last Updated: Sep 29, 2024