chr15:89321780:G>A Detail (hg38) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,865,011-89,865,011 View the variant detail on this assembly version.
hg38 chr15:89,321,780-89,321,780

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.2554C>T NP_001119603.1:p.Arg852Cys
NM_002693.2:c.2554C>T NP_002684.1:p.Arg852Cys
Ensemble ENST00000268124.11:c.2554C>T ENST00000268124.11:p.Arg852Cys
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-08-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-12-27 criteria provided, multiple submitters, no conflicts Progressive sclerosing poliodystrophy germline unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis unknown Detail
Uncertain significance 2019-01-01 no assertion criteria provided intellectual disability unknown Detail
Pathogenic 2017-12-01 criteria provided, single submitter hereditary spastic paraplegia germline Detail
Pathogenic 2022-05-31 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2024-03-25 criteria provided, single submitter POLG-Related Spectrum Disorders 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
0.481 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND not provided ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND Intellectual disability ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND Hereditary spastic paraplegia ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND Inborn genetic diseases ClinVar Detail
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) AND POLG-Related Spectrum Disorders ClinVar 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
rs144500145 dbSNP
Genome
hg38
Position
chr15:89,321,780-89,321,780
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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)
121316
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.594348643212767E-5
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