chr15:89321777:G>A Detail (hg38) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,865,008-89,865,008 View the variant detail on this assembly version.
hg38 chr15:89,321,777-89,321,777

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.2557C>T NP_001119603.1:p.Arg853Trp
NM_002693.2:c.2557C>T NP_002684.1:p.Arg853Trp
Ensemble ENST00000268124.11:c.2557C>T ENST00000268124.11:p.Arg853Trp
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 2006-05-01 no assertion criteria provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 germline Detail
Pathogenic Likely pathogenic 2024-01-15 criteria provided, multiple submitters, no conflicts Progressive sclerosing poliodystrophy germline unknown Detail
Uncertain significance 2020-06-05 criteria provided, single submitter not specified germline Detail
Likely pathogenic 2023-08-09 criteria provided, single submitter mitochondrial DNA depletion syndrome germline Detail
Likely pathogenic 2023-08-01 criteria provided, single submitter not provided 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.2557C>T (p.Arg853Trp) AND Progressive external ophthalmoplegia with mitochondria... ClinVar Detail
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) AND not specified ClinVar Detail
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) AND Mitochondrial DNA depletion syndrome ClinVar Detail
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) AND not provided 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
rs121918053 dbSNP
Genome
hg38
Position
chr15:89,321,777-89,321,777
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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)
121308
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.473043822336532E-5
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