View genomic variant #0000025153
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.89876827_89876828insTGC |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
POLG_000389 |
MSCV |
- |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
Lishuang Shen |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000735156; RCV003461011; | Chromosome | 15:89876826..89876826 | Allele frequencies from ExAC | 0.00001 | ClinVar Allele ID | 589760 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | not provided|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876826G>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001587|nonsense | Allele origin | germline | dbSNP ID | 774768199 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000758287; | Chromosome | 15:89876827..89876827 | ClinVar Allele ID | 610802 | 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.89876827T>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 587781118 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000803049; | Chromosome | 15:89876827..89876827 | ClinVar Allele ID | 643619 | 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.89876827delinsAGGCTGCTGTTGC | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 1596362608 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000127542; RCV000676328; RCV000758507; | Chromosome | 15:89876827..89876827 | ClinVar Allele ID | 142465 | Disease database name and identifier | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | not specified|not provided|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876827T>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA292850 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 587781118 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003463334; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 2835096 | 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.89876827 89876828insGC | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | unknown | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000153756; RCV000676330; RCV000714693; RCV000758545; RCV001847785; RCV002312681; RCV002492575; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 177972 | Disease database name and identifier | MedGen:CN169374|MeSH:D030342, MedGen:C0950123|MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MONDO:MONDO:0011283, MedGen:C4551995, OMIM:603041, Orphanet:298|MONDO:MONDO:0024528, MedGen:C1834846, OMIM:157640|MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MONDO:MONDO:0013350, MedGen:C3150914, OMIM:613662, Orphanet:298 | ClinVar preferred disease name | not specified|Inborn genetic diseases|not provided|POLG-Related Spectrum Disorders|Hereditary spastic paraplegia|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b | HGVS variant names | NC 000015.9:g.89876828TGC[12] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA295634 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000188534; RCV000226737; RCV000514102; RCV001847827; RCV002311278; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 203056 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | Inborn genetic diseases|not specified|not provided|Hereditary spastic paraplegia|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876828TGC[13] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA316621 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000188532; RCV000224549; RCV001080808; RCV002311277; RCV002492867; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 203058 | Disease database name and identifier | 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:CN169374|MedGen:C3661900 | ClinVar preferred disease name | 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 specified|not provided | HGVS variant names | NC 000015.9:g.89876828TGC[14] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA316618 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000548452; RCV000610037; RCV001722463; RCV002395317; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 465243 | Disease database name and identifier | MedGen:CN169374|MeSH:D030342, MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | not specified|Inborn genetic diseases|not provided|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876828TGC[15] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA658658323 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000540524; RCV001721552; RCV002395144; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 409386 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | Inborn genetic diseases|not provided|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876828TGC[16] | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Likely benign(2) | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA16620028 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001697437; RCV001854151; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 505489 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | not provided|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876828TGC[17] | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Likely benign(1) | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA658798420 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001325943; RCV002384437; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 1011689 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | Inborn genetic diseases|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876828TGC[18] | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Likely benign(1) | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001324718; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 1011690 | 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.89876828TGC[20] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002030210; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 1452954 | 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.89876828TGC[21] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001466754; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 770403 | 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.89876832 89876833insTTGCTGCTG | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 1555454334 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001296418; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 996455 | 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.89876829 89876830insTTGCTG | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 1555454333 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000481163; RCV002056761; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 409385 | Disease database name and identifier | MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MedGen:CN169374 | ClinVar preferred disease name | Progressive sclerosing poliodystrophy|not specified | HGVS variant names | NC 000015.9:g.89876829 89876830insTTGCTGCTG | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely benign | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Variant clinical sources reported | ClinGen:CA16620027 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 1555454333 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000991338; RCV002402414; | Chromosome | 15:89876827..89876828 | ClinVar Allele ID | 409384 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MedGen:C3661900 | ClinVar preferred disease name | Inborn genetic diseases|not provided | HGVS variant names | NC 000015.9:g.89876827 89876828delinsAG | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Likely benign(2) | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Variant clinical sources reported | ClinGen:CA10602308 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1064795981 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000153755; RCV000462442; RCV000676329; RCV001847784; RCV002312999; | Chromosome | 15:89876828..89876830 | ClinVar Allele ID | 177971 | Disease database name and identifier | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MeSH:D030342, MedGen:C0950123 | ClinVar preferred disease name | not specified|not provided|Hereditary spastic paraplegia|Progressive sclerosing poliodystrophy|Inborn genetic diseases | HGVS variant names | NC 000015.9:g.89876828TGC[10] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA295632 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000153757; RCV000676331; RCV001080820; RCV002312682; RCV002492576; | Chromosome | 15:89876828..89876833 | ClinVar Allele ID | 177973 | Disease database name and identifier | MedGen:C3661900|MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0011835, MedGen:C1843851, OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726|MONDO:MONDO:0011283, MedGen:C4551995, OMIM:603041, Orphanet:298|MONDO:MONDO:0024528, MedGen:C1834846, OMIM:157640|MONDO:MONDO:0009783, MedGen:C4225153, OMIM:258450, Orphanet:254886|MONDO:MONDO:0013350, MedGen:C3150914, OMIM:613662, Orphanet:298|MedGen:CN169374 | ClinVar preferred disease name | not provided|Inborn genetic diseases|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|not specified | HGVS variant names | NC 000015.9:g.89876828TGC[9] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA295636 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000188531; RCV000456895; RCV001196416; RCV001572826; RCV001847826; RCV002317143; RCV002503744; | Chromosome | 15:89876828..89876836 | ClinVar Allele ID | 203057 | Disease database name and identifier | 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:CN169374|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685 | ClinVar preferred disease name | 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 specified|not provided|Hereditary spastic paraplegia | HGVS variant names | NC 000015.9:g.89876828TGC[8] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA316616 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000188530; RCV000456165; RCV001200206; RCV001847825; RCV002317142; | Chromosome | 15:89876828..89876839 | ClinVar Allele ID | 203059 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | Inborn genetic diseases|not specified|not provided|Hereditary spastic paraplegia|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876828TGC[7] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA316614 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000188529; RCV000633535; RCV001795307; RCV002390496; | Chromosome | 15:89876828..89876842 | ClinVar Allele ID | 203060 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | Inborn genetic diseases|not specified|not provided|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876828TGC[6] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA316612 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000188528; RCV000230040; RCV002500575; RCV002514032; RCV003390916; | Chromosome | 15:89876828..89876845 | ClinVar Allele ID | 203061 | Disease database name and identifier | 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:CN169374|. | ClinVar preferred disease name | 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 specified|POLG-related condition | HGVS variant names | NC 000015.9:g.89876828TGC[5] | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Likely benign(5) | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA316610 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000374160; RCV001244117; | Chromosome | 15:89876828..89876848 | ClinVar Allele ID | 273477 | Disease database name and identifier | MedGen:CN169374|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | not specified|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876828TGC[4] | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Likely benign(1) | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA10606382 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001532268; RCV001873775; | Chromosome | 15:89876828..89876851 | ClinVar Allele ID | 1166152 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | not provided|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876828TGC[3] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001767088; | Chromosome | 15:89876828..89876854 | ClinVar Allele ID | 1297406 | Disease database name and identifier | MedGen:C3661900 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000015.9:g.89876828TGC[2] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000758544; | Chromosome | 15:89876828..89876857 | ClinVar Allele ID | 610804 | 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.89876828TGC[1] | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Benign(1) | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 41550117 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000758286; | Chromosome | 15:89876828..89876828 | Allele frequencies from ExAC | 0.00010 | Allele frequencies from TGP | 0.00040 | ClinVar Allele ID | 610803 | 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.89876828T>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 527965158 | 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
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