chr15:89323426:C>G Detail (hg38) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,866,657-89,866,657 View the variant detail on this assembly version.
hg38 chr15:89,323,426-89,323,426

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.2243G>C NP_001119603.1:p.Trp748Ser
NM_002693.2:c.2243G>C NP_002684.1:p.Trp748Ser
Ensemble ENST00000268124.11:c.2243G>C ENST00000268124.11:p.Trp748Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 174763 OMIM
HGNC 9179 HGNC
Ensembl ENSG00000140521 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-10-31 criteria provided, multiple submitters, no conflicts sensory ataxic neuropathy, dysarthria, and ophthalmoparesis germline paternal unknown Detail
Pathogenic 2007-12-01 no assertion criteria provided Spinocerebellar ataxia with epilepsy germline Detail
Pathogenic Likely pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts Progressive sclerosing poliodystrophy germline maternal paternal unknown Detail
Pathogenic Likely pathogenic 2024-01-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2013-11-01 no assertion criteria provided Charcot-Marie-Tooth disease not applicable Detail
Pathogenic 2023-10-12 criteria provided, multiple submitters, no conflicts POLG-Related Spectrum Disorders germline Detail
Pathogenic 2017-03-25 criteria provided, single submitter not specified germline Detail
Pathogenic 2017-04-07 no assertion criteria provided Mitochondrial disease germline Detail
Pathogenic 2022-07-28 criteria provided, multiple submitters, no conflicts mitochondrial DNA depletion syndrome 4b maternal paternal unknown Detail
Pathogenic 2022-05-04 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 germline Detail
Pathogenic 2023-08-23 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2024-02-01 criteria provided, single submitter POLG-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.489 Alpers Syndrome (disorder) NA CLINVAR Detail
<0.001 Blepharoptosis Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and... BeFree 18546343 Detail
0.121 Peripheral neuropathy Patients harboring A467T and W748S POLG1 mutations present with a broad variety ... BeFree 18546343 Detail
0.123 epilepsy Treatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S... BeFree 21515089 Detail
0.481 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis NA CLINVAR Detail
0.121 Spinocerebellar ataxia with epilepsy NA CLINVAR Detail
<0.001 ptosis Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and... BeFree 18546343 Detail
0.140 Diffuse Cerebral Sclerosis of Schilder Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpe... BeFree 18294203 Detail
0.140 Parkinsonian Disorders Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene. BeFree 18321754 Detail
0.003 Ataxia Neuropathy Spectrum The W748S mutation in POLG is the most common mutation in ataxia-neuropathy spec... BeFree 17088268 Detail
0.120 Charcot-Marie-Tooth disease NA CLINVAR Detail
0.256 Mitochondrial Diseases Mitochondrial disorder was clinically suspected and a homozygous c.2243G&gt;C mu... BeFree 23248042 Detail
0.007 Ataxia In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a n... BeFree 20153822 Detail
0.082 status epilepticus Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpe... BeFree 18294203 Detail
0.489 Alpers Syndrome (disorder) Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpe... BeFree 18294203 Detail
0.001 Liver failure A heterozygous POLG1 p.Q1236H mutation was related to valproate-induced liver fa... BeFree 25065347 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND Sensory ataxic neuropathy, dysarthria, and ophthalmopa... ClinVar Detail
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND Spinocerebellar ataxia with epilepsy ClinVar Detail
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND not provided ClinVar Detail
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C] AND Charcot-Marie-Tooth disease ClinVar Detail
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND POLG-Related Spectrum Disorders ClinVar Detail
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND not specified ClinVar Detail
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND Mitochondrial disease ClinVar Detail
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND Mitochondrial DNA depletion syndrome 4b ClinVar Detail
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND Progressive external ophthalmoplegia with mitochondria... ClinVar Detail
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND Inborn genetic diseases ClinVar Detail
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) AND POLG-related disorder ClinVar Detail
NA DisGeNET Detail
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutatio... DisGeNET Detail
Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phen... DisGeNET Detail
Treatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype is very ch... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutatio... DisGeNET Detail
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and stat... DisGeNET Detail
Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene. DisGeNET Detail
The W748S mutation in POLG is the most common mutation in ataxia-neuropathy spectrum disorders and i... DisGeNET Detail
NA DisGeNET Detail
Mitochondrial disorder was clinically suspected and a homozygous c.2243G&gt;C mutation (p.Trp748Ser)... DisGeNET Detail
In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive... DisGeNET Detail
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and stat... DisGeNET Detail
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and stat... DisGeNET Detail
A heterozygous POLG1 p.Q1236H mutation was related to valproate-induced liver failure without mtDNA ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs113994097 dbSNP
Genome
hg38
Position
chr15:89,323,426-89,323,426
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8604
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119838
Allele Counts in All Race (ExAC)
101
Heterozygous Counts in All Race (ExAC)
101
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.428044526777817E-4
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