chr15:89325639:G>A Detail (hg38) (POLG, POLGARF)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr15:89,868,870-89,868,870 View the variant detail on this assembly version.
hg38	chr15:89,325,639-89,325,639

HGVS

POLG

Type	Transcript	Protein
RefSeq	NM_001126131.1:c.1760C>T	NP_001119603.1:p.Pro587Leu
	NM_002693.2:c.1760C>T	NP_002684.1:p.Pro587Leu
Ensemble	ENST00000268124.11:c.1760C>T	ENST00000268124.11:p.Pro587Leu
	ENST00000442287.6:c.1760C>T	ENST00000442287.6:p.Pro587Leu
	ENST00000636937.2:c.1760C>T	ENST00000636937.2:p.Pro587Leu

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

POLG

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	tgv392961527	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-04-05	criteria provided, conflicting interpretations	mitochondrial DNA depletion syndrome 4b	germline unknown	Detail
Pathogenic	2017-12-03	criteria provided, single submitter	mitochondrial DNA depletion syndrome 1	inherited	Detail
Pathogenic Likely pathogenic	2022-09-01	criteria provided, multiple submitters, no conflicts	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	germline unknown	Detail
Pathogenic	2019-07-24	criteria provided, single submitter	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2022-11-01	criteria provided, conflicting interpretations	Progressive sclerosing poliodystrophy	germline maternal paternal unknown	Detail
Pathogenic	2014-07-15	criteria provided, single submitter	Global developmental delay	unknown	Detail
Conflicting interpretations of pathogenicity	2024-04-01	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Pathogenic	2017-04-07	no assertion criteria provided	Mitochondrial disease	germline	Detail
Pathogenic	2022-02-15	criteria provided, multiple submitters, no conflicts	Progressive sclerosing poliodystrophy,mitochondrial DNA depletion syndrome 4b	germline	Detail
Pathogenic	2022-02-15	criteria provided, multiple submitters, no conflicts	Progressive sclerosing poliodystrophy,mitochondrial DNA depletion syndrome 4b	germline	Detail
Pathogenic	2021-02-10	criteria provided, single submitter		maternal	Detail
Pathogenic	2021-01-04	criteria provided, single submitter	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	unknown	Detail
Pathogenic Likely pathogenic	2022-12-19	criteria provided, multiple submitters, no conflicts	POLG-related disorder	germline unknown	Detail
Pathogenic	2021-07-10	criteria provided, single submitter		germline	Detail
Likely pathogenic	2021-11-22	criteria provided, single submitter	hereditary spastic paraplegia	germline	Detail
Uncertain significance	2021-12-08	criteria provided, single submitter	Stroke disorder	germline	Detail
Pathogenic	2022-06-07	criteria provided, single submitter	POLG-Related Spectrum Disorders	germline	Detail
Pathogenic	2021-07-13	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2022-10-19	criteria provided, single submitter	hypertrophic cardiomyopathy	paternal	Detail
not provided		no assertion provided	mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	paternal unknown	Detail
not provided		no assertion provided	mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	paternal unknown	Detail
not provided		no assertion provided	mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	paternal unknown	Detail
not provided		no assertion provided	mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	paternal unknown	Detail
Pathogenic	2023-05-19	criteria provided, single submitter	not provided	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)	NA	CLINVAR		Detail
0.240	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME	NA	CLINVAR		Detail
0.481	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	NA	CLINVAR		Detail
0.489	Alpers Syndrome (disorder)	Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochond...	UNIPROT	12825077	Detail
0.360	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)	Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochond...	UNIPROT	12825077	Detail
0.481	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	Autosomal recessive progressive external ophthalmoplegia (PEO) is one clinical d...	UNIPROT	12825077	Detail
<0.001	Leukoencephalopathies	We report a recessive family with features of MNGIE but no leukoencephalopathy i...	BeFree	12825077	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Mitochondrial DNA depletion syndrome 4b	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Mitochondrial DNA depletion syndrome 1	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Progressive external ophthalmoplegia with mitochondria...	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND not specified	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Progressive sclerosing poliodystrophy	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Global developmental delay	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND not provided	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Mitochondrial disease	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Tip-toe gait	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Sensory ataxic neuropathy, dysarthria, and ophthalmopa...	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND POLG-related disorder	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Abnormality of the nervous system	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Hereditary spastic paraplegia	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Stroke disorder	ClinVar	Detail
NM_002693.3(POLG):c.[1760C>T;752C>T] AND POLG-Related Spectrum Disorders	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Inborn genetic diseases	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.[1760C>T;752C>T] AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointe...	DisGeNET	Detail
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointe...	DisGeNET	Detail
Autosomal recessive progressive external ophthalmoplegia (PEO) is one clinical disorder associated w...	DisGeNET	Detail
We report a recessive family with features of MNGIE but no leukoencephalopathy in which two patients...	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: rs113994096 dbSNP
Genome: hg38
Position: chr15:89,325,639-89,325,639
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8614
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): 121022
Allele Counts in All Race (ExAC): 206
Heterozygous Counts in All Race (ExAC): 204
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 0.0017021698534150816

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