chr15:89872286:A>C Detail (hg19) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,872,286-89,872,286
hg38 chr15:89,329,055-89,329,055 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.911T>G NP_001119603.1:p.Leu304Arg
NM_002693.2:c.911T>G NP_002684.1:p.Leu304Arg
Ensemble ENST00000268124.11:c.911T>G ENST00000268124.11:p.Leu304Arg
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 2022-10-17 criteria provided, multiple submitters, no conflicts Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 germline Detail
Pathogenic Likely pathogenic 2021-06-17 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2023-12-17 criteria provided, multiple submitters, no conflicts Progressive sclerosing poliodystrophy germline inherited 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,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 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,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 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,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 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,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 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,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 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,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 unknown Detail
Pathogenic 2019-02-15 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2021-07-10 criteria provided, single submitter germline Detail
Pathogenic 2023-04-27 criteria provided, single submitter POLG-related disorder 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
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND Progressive external ophthalmoplegia with mitochondrial... ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND not provided ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND Inborn genetic diseases ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND Abnormality of the mitochondrion ClinVar Detail
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND POLG-related disorder ClinVar 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
rs121918044 dbSNP
Genome
hg19
Position
chr15:89,872,286-89,872,286
Variant Type
snv
Reference Allele
A
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8588
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)
119622
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.523699653909816E-5
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