chr15:89327201:C>T Detail (hg38) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,870,432-89,870,432 View the variant detail on this assembly version.
hg38 chr15:89,327,201-89,327,201

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.1399G>A NP_001119603.1:p.Ala467Thr
NM_002693.2:c.1399G>A NP_002684.1:p.Ala467Thr
Ensemble ENST00000268124.11:c.1399G>A ENST00000268124.11:p.Ala467Thr
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
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 tgv392961589 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-03-30 criteria provided, multiple submitters, no conflicts Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 germline Detail
Pathogenic 2022-08-04 criteria provided, multiple submitters, no conflicts sensory ataxic neuropathy, dysarthria, and ophthalmoparesis germline maternal paternal Detail
Pathogenic 2011-02-11 no assertion criteria provided Spinocerebellar ataxia with epilepsy germline Detail
Pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts Progressive sclerosing poliodystrophy germline maternal paternal unknown Detail
Pathogenic 2020-03-26 criteria provided, multiple submitters, no conflicts Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 maternal unknown Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-12-06 criteria provided, multiple submitters, no conflicts POLG-Related Spectrum Disorders germline Detail
Pathogenic 2017-04-07 no assertion criteria provided Mitochondrial disease germline Detail
Pathogenic 2021-12-28 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy unknown Detail
Pathogenic criteria provided, single submitter Progressive sclerosing poliodystrophy,mitochondrial DNA depletion syndrome 4b germline Detail
Pathogenic criteria provided, single submitter Progressive sclerosing poliodystrophy,mitochondrial DNA depletion syndrome 4b germline Detail
Pathogenic 2024-02-23 criteria provided, multiple submitters, no conflicts POLG-related disorder unknown germline inherited Detail
Pathogenic 2019-05-07 criteria provided, single submitter mitochondrial DNA depletion syndrome 4b unknown Detail
Pathogenic 2018-11-08 criteria provided, single submitter unknown Detail
Pathogenic 2020-07-21 criteria provided, single submitter mitochondrial DNA depletion syndrome 4b,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy germline Detail
Pathogenic 2020-07-21 criteria provided, single submitter mitochondrial DNA depletion syndrome 4b,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy germline Detail
Pathogenic 2020-07-21 criteria provided, single submitter mitochondrial DNA depletion syndrome 4b,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy germline Detail
Pathogenic 2020-07-21 criteria provided, single submitter mitochondrial DNA depletion syndrome 4b,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy germline Detail
Pathogenic 2020-07-21 criteria provided, single submitter mitochondrial DNA depletion syndrome 4b,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy germline Detail
Pathogenic 2021-08-23 criteria provided, single submitter mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis germline Detail
Pathogenic 2021-08-23 criteria provided, single submitter mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis germline Detail
Pathogenic 2021-08-23 criteria provided, single submitter mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis germline Detail
Pathogenic 2021-08-23 criteria provided, single submitter mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis germline Detail
Pathogenic 2020-05-01 criteria provided, single submitter hereditary spastic paraplegia germline Detail
Pathogenic criteria provided, single submitter biparental Detail
Pathogenic 2021-10-22 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE NA CLINVAR Detail
0.489 Alpers Syndrome (disorder) NA CLINVAR Detail
0.140 Diffuse Cerebral Sclerosis of Schilder Proof of progression over time: finally fulminant brain, muscle, and liver affec... BeFree 18783964 Detail
0.489 Alpers Syndrome (disorder) We describe a 3.5-year-old female with Alpers disease with a POLG genotype of p.... BeFree 19766516 Detail
0.481 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE Mutation of POLG is associated with progressive external ophthalmoplegia charact... UNIPROT 11431686 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
0.481 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mutation of POLG is associated with progressive external ophthalmoplegia charact... UNIPROT 11431686 Detail
0.489 Alpers Syndrome (disorder) Proof of progression over time: finally fulminant brain, muscle, and liver affec... BeFree 18783964 Detail
0.001 Ophthalmoparesis Two siblings who developed fifth-decade-onset, concurrent progressive sensory at... BeFree 19813183 Detail
0.489 Alpers Syndrome (disorder) Mutation of POLG is associated with progressive external ophthalmoplegia charact... UNIPROT 11431686 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
0.360 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Progressive external ophthalmoplegia with mitochondria... ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Sensory ataxic neuropathy, dysarthria, and ophthalmopa... ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Spinocerebellar ataxia with epilepsy ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Progressive external ophthalmoplegia with mitochondria... ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND not provided ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND POLG-Related Spectrum Disorders ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Mitochondrial disease ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND POLG-related disorder ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Mitochondrial DNA depletion syndrome 4b ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Tip-toe gait ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Hereditary spastic paraplegia ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Neurodevelopmental delay ClinVar Detail
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) AND Inborn genetic diseases ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndr... DisGeNET Detail
We describe a 3.5-year-old female with Alpers disease with a POLG genotype of p.A467T/p.G848S and wi... DisGeNET Detail
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA dele... 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
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA dele... DisGeNET Detail
Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndr... DisGeNET Detail
Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, an... DisGeNET Detail
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA dele... DisGeNET Detail
NA DisGeNET Detail
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutatio... DisGeNET Detail
NA 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
rs113994095 dbSNP
Genome
hg38
Position
chr15:89,327,201-89,327,201
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
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)
121378
Allele Counts in All Race (ExAC)
63
Heterozygous Counts in All Race (ExAC)
63
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.190396941785166E-4
Genome browser