chr15:89323460:C>G Detail (hg38) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,866,691-89,866,691 View the variant detail on this assembly version.
hg38 chr15:89,323,460-89,323,460

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.2209G>C NP_001119603.1:p.Gly737Arg
NM_002693.2:c.2209G>C NP_002684.1:p.Gly737Arg
Ensemble ENST00000268124.11:c.2209G>C ENST00000268124.11:p.Gly737Arg
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 tgv392961124 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2021-09-16 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 germline Detail
Pathogenic Likely pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline inherited unknown Detail
Pathogenic Likely pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Progressive sclerosing poliodystrophy germline paternal unknown Detail
Pathogenic Likely pathogenic 2022-05-31 criteria provided, multiple submitters, no conflicts POLG-Related Spectrum Disorders germline Detail
Pathogenic 2017-04-07 no assertion criteria provided Mitochondrial disease germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive sclerosing poliodystrophy germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive sclerosing poliodystrophy germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive sclerosing poliodystrophy germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive sclerosing poliodystrophy germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive sclerosing poliodystrophy germline 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
Likely pathogenic 2021-12-22 criteria provided, single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis germline Detail
Pathogenic 2019-12-01 criteria provided, single submitter hereditary spastic paraplegia germline Detail
Pathogenic 2023-11-17 criteria provided, single submitter Inborn genetic diseases germline Detail
Likely pathogenic 2023-01-10 no assertion criteria provided germline Detail
Pathogenic 2023-11-22 criteria provided, single submitter POLG-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) NA CLINVAR Detail
0.481 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE NA CLINVAR Detail
0.481 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis NA CLINVAR Detail
0.481 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE Early-onset familial parkinsonism due to POLG mutations. UNIPROT 16634032 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND Progressive external ophthalmoplegia with mitochondria... ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND not provided ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND POLG-Related Spectrum Disorders ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND Mitochondrial disease ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND Sensory ataxic neuropathy, dysarthria, and ophthalmopa... ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND Hereditary spastic paraplegia ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND Inborn genetic diseases ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND Tip-toe gait ClinVar Detail
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) AND POLG-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Early-onset familial parkinsonism due to POLG mutations. 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
rs121918054 dbSNP
Genome
hg38
Position
chr15:89,323,460-89,323,460
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8650
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)
120884
Allele Counts in All Race (ExAC)
83
Heterozygous Counts in All Race (ExAC)
83
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.866086496145065E-4
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