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

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 6, 2021
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:
RCV002487132.1

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, autosomal dominant 4
Synonyms:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 4
Identifiers:
MONDO: MONDO:0012415; MedGen: C1864668; OMIM: 610131
Name:
Mitochondrial DNA depletion syndrome 16 (hepatic type)
Identifiers:
MONDO: MONDO:0032799; MedGen: C5193142; OMIM: 618528
Name:
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
Identifiers:
MONDO: MONDO:0030326; MedGen: C5543632; OMIM: 619425

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002798924Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 6, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002798924.1

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

Last Updated: Sep 29, 2024