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

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 25, 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:: RCV001789300.2

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002031693	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Oct 25, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002031693

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Oct 25, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical 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 Genome-Nilou Lab, SCV002031693.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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