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NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) AND Childhood myocerebrohepatopathy spectrum

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001263172.2

Allele description [Variation Report for NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)]

NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)

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.3286C>T (p.Arg1096Cys)
Other names:
p.R1096C:CGT>TGT
HGVS:
  • NC_000015.10:g.89318737G>A
  • NG_008218.2:g.21059C>T
  • NG_011736.1:g.79775G>A
  • NM_001126131.2:c.3286C>T
  • NM_002693.3:c.3286C>TMANE SELECT
  • NP_001119603.1:p.Arg1096Cys
  • NP_002684.1:p.Arg1096Cys
  • NP_002684.1:p.Arg1096Cys
  • LRG_765t1:c.3286C>T
  • LRG_500:g.79775G>A
  • LRG_765:g.21059C>T
  • LRG_765p1:p.Arg1096Cys
  • NC_000015.9:g.89861968G>A
  • NM_001126131.2:c.3286C>T
  • NM_002693.2:c.3286C>T
  • P54098:p.Arg1096Cys
Protein change:
R1096C
Links:
UniProtKB: P54098#VAR_023686; dbSNP: rs201732356
NCBI 1000 Genomes Browser:
rs201732356
Molecular consequence:
  • NM_001126131.2:c.3286C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.3286C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Childhood myocerebrohepatopathy spectrum
Identifiers:
MedGen: C3713421

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245409Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University
no assertion criteria provided
Pathogenicgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Thaigermlineyes1not providednot providednot providednot providedresearch
Thaigermlineno21not providednot providednot providedresearch

Details of each submission

From Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University, SCV001245409.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Thai2not providednot providedresearchnot provided
2Thai1not providednot providedresearchnot provided

Description

The patient is found compound heterozygous with c.3102delG in POLG.

Description

The p.Arg1096Cys variant in POLG gene has been previously reported many times with autosomal recessive inheritance pattern. Homozygous mutation of this variant was reported in a Saudi child with Alpers-Huttenlocher syndrome (AHS) (Kentab, 2019). Other reports could be accessed in The POLG Pathogenicity Prediction Server (http://polg.bmb.msu.edu).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot provided2not provided1not provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024