View genomic variant #0000002556
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.89876954C>T |
Published as |
- |
GERP |
0.337 |
Segregation |
- |
DB-ID |
POLG_000159 See all 2 reported entries |
MSCV |
MSCV_0002556 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; POLG_MUT_DB; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000532508; | Chromosome | 15:89876954..89876954 | ClinVar Allele ID | 465390 | Disease database name and identifier | MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876954C>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA393775294 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 765472726 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000633544; RCV000724132; RCV000763999; RCV001116627; RCV001252351; RCV001847811; RCV002453618; RCV003407646; | Chromosome | 15:89876954..89876954 | Allele frequencies from ExAC | 0.00018 | ClinVar Allele ID | 192343 | Disease database name and identifier | MedGen:C4763519|MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0024528, MedGen:C1834846, OMIM:157640|MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MONDO:MONDO:0011283, MedGen:C4551995, OMIM:603041, Orphanet:298|MONDO:MONDO:0013350, MedGen:C3150914, OMIM:613662, Orphanet:298|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|Human Phenotype Ontology:HP:0000730, Human Phenotype Ontology:HP:0001249, Human Phenotype Ontology:HP:0001267, Human Phenotype Ontology:HP:0001286, Human Phenotype Ontology:HP:0002122, Human Phenotype Ontology:HP:0002192, Human Phenotype Ontology:HP:0002316, Human Phenotype Ontology:HP:0002382, Human Phenotype Ontology:HP:0002386, Human Phenotype Ontology:HP:0002402, Human Phenotype Ontology:HP:0002458, Human Phenotype Ontology:HP:0002482, Human Phenotype Ontology:HP:0002499, Human Phenotype Ontology:HP:0002543, Human Phenotype Ontology:HP:0003767, Human Phenotype Ontology:HP:0006833, Human Phenotype Ontology:HP:0007154, Human Phenotype Ontology:HP:0007176, Human Phenotype Ontology:HP:0007180, MONDO:MONDO:0001071, MeSH:D008607, MedGen:C3714756|. | ClinVar preferred disease name | POLG-Related Spectrum Disorders|Inborn genetic diseases|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 1|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|not provided|Hereditary spastic paraplegia|Intellectual disability|POLG-related condition | HGVS variant names | NC 000015.9:g.89876954C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(10)|Likely benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA302812 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 765472726 | For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN | MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595 | For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. | 424791:Likely pathogenic | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
None Ensembl Variant Phenotype Information:
None
|