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NM_002693.3(POLG):c.803G>C (p.Gly268Ala) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 22, 2020
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:
RCV002312719.9

Allele description [Variation Report for NM_002693.3(POLG):c.803G>C (p.Gly268Ala)]

NM_002693.3(POLG):c.803G>C (p.Gly268Ala)

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.803G>C (p.Gly268Ala)
Other names:
p.G268A:GGG>GCG
HGVS:
  • NC_000015.10:g.89330133C>G
  • NG_008218.2:g.9663G>C
  • NM_001126131.2:c.803G>C
  • NM_002693.3:c.803G>CMANE SELECT
  • NP_001119603.1:p.Gly268Ala
  • NP_002684.1:p.Gly268Ala
  • NP_002684.1:p.Gly268Ala
  • LRG_765t1:c.803G>C
  • LRG_765:g.9663G>C
  • LRG_765p1:p.Gly268Ala
  • NC_000015.9:g.89873364C>G
  • NM_002693.2:c.803G>C
  • P54098:p.Gly268Ala
Protein change:
G268A
Links:
UniProtKB: P54098#VAR_058873; dbSNP: rs61752784
NCBI 1000 Genomes Browser:
rs61752784
Molecular consequence:
  • NM_001126131.2:c.803G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.803G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000846687Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 22, 2020) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.

Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, Bresolin N, Comi GP.

Neurology. 2003 Oct 14;61(7):903-8.

PubMed [citation]
PMID:
14557557

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP.

Hum Mutat. 2003 Dec;22(6):498-9.

PubMed [citation]
PMID:
14635118
See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV000846687.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Jan 19, 2025