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NM_002693.3(POLG):c.3630dup (p.Gly1211fs) AND Mitochondrial disease

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
May 6, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000020479.5

Allele description [Variation Report for NM_002693.3(POLG):c.3630dup (p.Gly1211fs)]

NM_002693.3(POLG):c.3630dup (p.Gly1211fs)

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.3630dup (p.Gly1211fs)
Other names:
NM_002693.2(POLG):c.3630dup; p.Gly1211fs
HGVS:
  • NC_000015.10:g.89317389dup
  • NG_008218.2:g.22407dup
  • NG_011736.1:g.78427dup
  • NM_001126131.2:c.3630dup
  • NM_002693.3:c.3630dupMANE SELECT
  • NP_001119603.1:p.Gly1211fs
  • NP_002684.1:p.Gly1211fs
  • LRG_500:g.78427dup
  • LRG_765:g.22407dup
  • NC_000015.9:g.89860620dup
  • NM_002693.2:c.3630dupC
Protein change:
G1211fs
Links:
dbSNP: rs113994101
NCBI 1000 Genomes Browser:
rs113994101
Molecular consequence:
  • NM_001126131.2:c.3630dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002693.3:c.3630dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mitochondrial disease
Synonyms:
Mitochondrial diseases; Mitochondrial disorder
Identifiers:
MONDO: MONDO:0044970; MeSH: D028361; MedGen: C0751651; Orphanet: 68380

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040916GeneReviews
no classification provided
not providedgermlineliterature only

SCV001994843ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(clingen mito disease acmg specifications v1-1)		Likely pathogenic
(May 6, 2021) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only, curation

Details of each submission

From GeneReviews, SCV000040916.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen, SCV001994843.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.3630dup (p.Gly1211ArgfsTer6) variant in POLG was not in any databases (PM2). This variant results in a frameshift causing a loss of function (PVS1). There are no publications of cases with this variant. In summary, this variant meets criteria to be classified as likely pathogenic for mitochondrial disease inherited in an autosomal recessive manner. ntDNA ACMG/AMP criteria for POLG applied: PVS1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 9, 2023