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NM_002693.3(POLG):c.3561G>C (p.Arg1187=) AND Mitochondrial disease

Germline classification:
Uncertain significance (1 submission)
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:
RCV001753496.9

Allele description [Variation Report for NM_002693.3(POLG):c.3561G>C (p.Arg1187=)]

NM_002693.3(POLG):c.3561G>C (p.Arg1187=)

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.3561G>C (p.Arg1187=)
Other names:
p.R1187R:CGG>CGC; NM_002693.2(POLG):c.3561G>C; p.Arg1187=
HGVS:
  • NC_000015.10:g.89317458C>G
  • NG_008218.2:g.22338G>C
  • NG_011736.1:g.78496C>G
  • NM_001126131.2:c.3561G>C
  • NM_002693.3:c.3561G>CMANE SELECT
  • NP_001119603.1:p.Arg1187=
  • NP_002684.1:p.Arg1187=
  • NP_002684.1:p.Arg1187=
  • LRG_765t1:c.3561G>C
  • LRG_500:g.78496C>G
  • LRG_765:g.22338G>C
  • LRG_765p1:p.Arg1187=
  • NC_000015.9:g.89860689C>G
  • NM_002693.2:c.3561G>C
Links:
dbSNP: rs62640037
NCBI 1000 Genomes Browser:
rs62640037
Molecular consequence:
  • NM_001126131.2:c.3561G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002693.3:c.3561G>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001994845ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(clingen mito disease acmg specifications v1-1)		Uncertain significance
(May 6, 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, SCV001994845.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.3561 G>C (p.Arg1187=) variant in POLG is present in population databases 1000 genome 0.03%, ExAC at 0.002%, and gnomAD at 0.002% (PM2; observed < 0.05% frequency). Computational prediction tool Revel unavailable given limited data. This variant was observed in homozygotes in 13 cases in gnomAD and 1 case in ExAC (BS2). This variant is a coding synonymous change (BP7). 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 a autosomal recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BS2, PM2, BP7.

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

Last Updated: Jun 9, 2024