GeneBe

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 (546 variants)
  • not_provided (180 variants)
  • Inborn_genetic_diseases (67 variants)
  • not_specified (57 variants)
  • POLG-related_disorder (47 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)
  • POLG-Related_Spectrum_Disorders (13 variants)
  • Mitochondrial_disease (5 variants)
  • Mitochondrial_DNA_depletion_syndrome (4 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
5
clinvar
122
clinvar
17
clinvar
1
clinvar
 147
missense
11
clinvar
14
clinvar
161
clinvar
154
clinvar
2
clinvar
 342
nonsense
5
clinvar
 5
start loss
0
frameshift
8
clinvar
8
clinvar
1
clinvar
 17
splice donor/acceptor (+/-2bp)
3
clinvar
 3
Total 21 30 284 176 3

Highest pathogenic variant AF is 0.0000333548

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP