chr15:89873415:G>A Detail (hg19) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,873,415-89,873,415
hg38 chr15:89,330,184-89,330,184 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.752C>T NP_001119603.1:p.Thr251Ile
NM_002693.2:c.752C>T NP_002684.1:p.Thr251Ile
Ensemble ENST00000636937.2:c.752C>T ENST00000636937.2:p.Thr251Ile
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 Conflicting classifications of pathogenicity
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 Likely pathogenic 2022-09-01 criteria provided, multiple submitters, no conflicts Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 germline unknown Detail
Conflicting interpretations of pathogenicity 2022-02-15 criteria provided, conflicting interpretations mitochondrial DNA depletion syndrome 4b germline unknown Detail
Likely pathogenic 2017-12-03 criteria provided, single submitter mitochondrial DNA depletion syndrome 1 inherited Detail
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations Progressive sclerosing poliodystrophy germline maternal unknown Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline Detail
Pathogenic 2019-07-24 criteria provided, single submitter not specified germline Detail
Pathogenic 2016-06-14 criteria provided, single submitter POLG-Related Spectrum Disorders germline Detail
Pathogenic 2014-07-15 criteria provided, single submitter Global developmental delay 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 2021-01-04 criteria provided, single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis unknown Detail
Pathogenic 2021-02-10 criteria provided, single submitter maternal Detail
Pathogenic Likely pathogenic 2022-12-19 criteria provided, multiple submitters, no conflicts POLG-related disorder germline unknown Detail
Pathogenic 2021-07-10 criteria provided, single submitter germline Detail
Likely pathogenic 2021-11-22 criteria provided, single submitter hereditary spastic paraplegia germline Detail
Pathogenic 2022-06-07 criteria provided, single submitter POLG-Related Spectrum Disorders germline Detail
not provided no assertion provided Mitochondrial disease germline Detail
Uncertain significance 2021-12-08 criteria provided, single submitter Stroke disorder unknown Detail
Pathogenic 2021-07-13 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2022-10-19 criteria provided, single submitter hypertrophic cardiomyopathy paternal Detail
not provided no assertion provided mitochondrial DNA depletion syndrome 4b,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis paternal unknown Detail
not provided no assertion provided mitochondrial DNA depletion syndrome 4b,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis paternal unknown Detail
not provided no assertion provided mitochondrial DNA depletion syndrome 4b,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis paternal unknown Detail
not provided no assertion provided mitochondrial DNA depletion syndrome 4b,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis paternal unknown Detail
Pathogenic 2023-05-19 criteria provided, single submitter not provided unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.489 Alpers Syndrome (disorder) Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosom... UNIPROT 12210792 Detail
0.481 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosom... UNIPROT 12210792 Detail
0.360 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) NA CLINVAR Detail
0.360 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosom... UNIPROT 12210792 Detail
0.240 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME NA CLINVAR Detail
0.481 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE NA CLINVAR Detail
0.489 Alpers Syndrome (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Progressive external ophthalmoplegia with mitochondrial... ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Mitochondrial DNA depletion syndrome 4b ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Mitochondrial DNA depletion syndrome 1 ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND not provided ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND not specified ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND POLG-Related Spectrum Disorders ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Global developmental delay ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Sensory ataxic neuropathy, dysarthria, and ophthalmopar... ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Tip-toe gait ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND POLG-related disorder ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Abnormality of the nervous system ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Hereditary spastic paraplegia ClinVar Detail
NM_002693.3(POLG):c.[1760C>T;752C>T] AND POLG-Related Spectrum Disorders ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Mitochondrial disease ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Stroke disorder ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Inborn genetic diseases ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.[1760C>T;752C>T] AND not provided ClinVar Detail
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or reces... DisGeNET Detail
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or reces... DisGeNET Detail
NA DisGeNET Detail
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or reces... DisGeNET Detail
NA DisGeNET Detail
NA 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
rs113994094 dbSNP
Genome
hg19
Position
chr15:89,873,415-89,873,415
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8618
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)
120592
Allele Counts in All Race (ExAC)
207
Heterozygous Counts in All Race (ExAC)
205
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0017165317765689267
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