POLGARF

POLG alternative reading frame

Basic information

Region (hg38): 15:89330208-89333809

Links

ENSG00000291307

∙ NCBI:125316803 ∙ ∙ HGNC:56246 ∙ Uniprot:A0A3B3IS91 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POLGARF gene.

Progressive_sclerosing_poliodystrophy (562 variants)
not_provided (190 variants)
Inborn_genetic_diseases (72 variants)
not_specified (60 variants)
POLG-related_disorder (55 variants)
Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1 (30 variants)
Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis (29 variants)
Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1 (28 variants)
Mitochondrial_DNA_depletion_syndrome_4b (28 variants)
Mitochondrial_DNA_depletion_syndrome_1 (18 variants)
Hereditary_spastic_paraplegia (14 variants)
Mitochondrial_DNA_depletion_syndrome (5 variants)
Mitochondrial_disease (5 variants)
Intellectual_disability (4 variants)
Primary_progressive_multiple_sclerosis (2 variants)
Hereditary_skeletal_muscle_disorder (1 variants)
Mitochondrial_neurogastrointestinal_encephalomyopathy (1 variants)
See_cases (1 variants)
Autism (1 variants)
Abnormality_of_corpus_callosum (1 variants)
Neuromuscular_disease (1 variants)
Seizure (1 variants)
Failure_to_thrive (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLGARF gene is commonly pathogenic or not. These statistics are base on transcript: NM_001430120.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous	2 clinvar	5 clinvar	126 clinvar	16 clinvar	1 clinvar	150
missense	12 clinvar	14 clinvar	166 clinvar	158 clinvar	2 clinvar	352
nonsense				5 clinvar		5
start loss						0
frameshift	9 clinvar	8 clinvar	1 clinvar			18
splice donor/acceptor (+/-2bp)		3 clinvar				3
Total	23	30	293	179	3

Highest pathogenic variant AF is 0.00003335484

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP