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NM_002693.3(POLG):c.2254C>T (p.Leu752=) AND Mitochondrial disease

Germline classification:
Benign (1 submission)
Last evaluated:
May 23, 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:
RCV001753495.9

Allele description [Variation Report for NM_002693.3(POLG):c.2254C>T (p.Leu752=)]

NM_002693.3(POLG):c.2254C>T (p.Leu752=)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.2254C>T (p.Leu752=)
Other names:
p.L752L:CTG>TTG; NM_002693.2(POLG):c.2254C>T; p.Leu752=
HGVS:
  • NC_000015.10:g.89323415G>A
  • NG_008218.2:g.16381C>T
  • NM_001126131.2:c.2254C>T
  • NM_002693.3:c.2254C>TMANE SELECT
  • NP_001119603.1:p.Leu752=
  • NP_002684.1:p.Leu752=
  • NP_002684.1:p.Leu752=
  • LRG_765t1:c.2254C>T
  • LRG_765:g.16381C>T
  • LRG_765p1:p.Leu752=
  • NC_000015.9:g.89866646G>A
  • NM_002693.2:c.2254C>T
Links:
dbSNP: rs41564016
NCBI 1000 Genomes Browser:
rs41564016
Molecular consequence:
  • NM_001126131.2:c.2254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002693.3:c.2254C>T - 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
SCV001994857ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(clingen mito disease acmg specifications v1-1)		Benign
(May 23, 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, SCV001994857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.2254 C>T (p.Leu752=) variant in POLG has been reported with an allele frequency in the population at 1.3 % in GnomAD and 6.2% in ExAC (BS1). It is also a synonymous change which is not predicted to impact the protein (BP7). In summary, this variant meets criteria to be classified benign for primary mitochondrial disease inherited in a recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BS1, BP7.

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

Last Updated: Oct 20, 2024