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NM_002693.3(POLG):c.*122G>A AND Mitochondrial disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 7, 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:
RCV001526412.1

Allele description [Variation Report for NM_002693.3(POLG):c.*122G>A]

NM_002693.3(POLG):c.*122G>A

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.*122G>A
HGVS:
  • NC_000015.10:g.89316629C>T
  • NG_008218.2:g.23167G>A
  • NG_011736.1:g.77667C>T
  • NM_001113378.2:c.*170C>TMANE SELECT
  • NM_001126131.2:c.*122G>A
  • NM_001376910.1:c.*170C>T
  • NM_001376911.1:c.*170C>T
  • NM_002693.3:c.*122G>AMANE SELECT
  • NM_018193.3:c.*170C>T
  • LRG_500t1:c.*170C>T
  • LRG_765t1:c.*122G>A
  • LRG_500:g.77667C>T
  • LRG_765:g.23167G>A
  • NC_000015.9:g.89859860C>T
  • NM_001113378.1:c.*170C>T
  • NM_002693.2(POLG):c.*122G>A
  • NM_002693.2:c.*122G>A
Links:
dbSNP: rs886051517
NCBI 1000 Genomes Browser:
rs886051517
Molecular consequence:
  • NM_001113378.2:c.*170C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126131.2:c.*122G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376910.1:c.*170C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376911.1:c.*170C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_002693.3:c.*122G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_018193.3:c.*170C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV001736750ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen Mito Disease ACMG Specifications v1)		Uncertain significance
(May 7, 2021) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen, SCV001736750.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.122G>A (p.Arg42) variant in POLG has been observed in population database gnomAD at 0.03% (PM2). This variant has been observed in 1 case with another molecular cause - a large scale mitochondrial DNA deletion with clinical features of Kearns Sayre Syndrome (BP5; PMID: 21378381). In summary, there is not sufficient evidence to characterize this variant as pathogenic or benign, therefore it is characterized as a variant of uncertain significance for primary mitochondrial disease inherited in an autosomal recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: PM2, BP5.

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

Last Updated: Sep 1, 2024