chr15:89327006:C>G Detail (hg38) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,870,237-89,870,237 View the variant detail on this assembly version.
hg38 chr15:89,327,006-89,327,006

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.1491G>C NP_001119603.1:p.Gln497His
NM_002693.2:c.1491G>C NP_002684.1:p.Gln497His
Ensemble ENST00000268124.11:c.1491G>C ENST00000268124.11:p.Gln497His
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 Uncertain significance
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 2005-04-12 no assertion criteria provided Spinocerebellar ataxia with epilepsy germline Detail
Uncertain significance 2013-11-01 no assertion criteria provided Charcot-Marie-Tooth disease not applicable Detail
Uncertain significance 2023-11-21 criteria provided, multiple submitters, no conflicts Progressive sclerosing poliodystrophy germline Detail
Uncertain significance 2021-08-05 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2021-10-25 criteria provided, single submitter Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Uncertain significance 2021-10-25 criteria provided, single submitter Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Uncertain significance 2021-10-25 criteria provided, single submitter Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Uncertain significance 2021-10-25 criteria provided, single submitter Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Uncertain significance 2021-10-25 criteria provided, single submitter Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Uncertain significance 2021-10-25 criteria provided, single submitter Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Uncertain significance 2023-04-25 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Spinocerebellar ataxia with epilepsy NA CLINVAR Detail
0.120 Charcot-Marie-Tooth disease NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND Spinocerebellar ataxia with epilepsy ClinVar Detail
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C] AND Charcot-Marie-Tooth disease ClinVar Detail
NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND not provided ClinVar Detail
NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND not specified 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
rs121918052 dbSNP
Genome
hg38
Position
chr15:89,327,006-89,327,006
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
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)
121404
Allele Counts in All Race (ExAC)
29
Heterozygous Counts in All Race (ExAC)
29
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.38871865836381E-4
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