View genomic variant #0000017769
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.89876858T>C |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
POLG_000156 See all 2 reported entries |
MSCV |
MSCV_0002552 |
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 |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000733617; | Chromosome | 15:89876858..89876858 | ClinVar Allele ID | 588542 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000015.9:g.89876858T>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 | 28567406 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000118010; RCV000461596; RCV000676333; RCV001116624; RCV001847709; RCV002312228; | Chromosome | 15:89876858..89876858 | Allele frequencies from ExAC | 0.00630 | Allele frequencies from TGP | 0.02316 | ClinVar Allele ID | 135435 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MedGen:C4763519|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|POLG-Related Spectrum Disorders|not specified|not provided|Hereditary spastic paraplegia|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876858T>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA288980 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 28567406 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000224767; RCV001088279; RCV001848849; | Chromosome | 15:89876858..89876859 | ClinVar Allele ID | 409388 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | not provided|Hereditary spastic paraplegia|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876861CGC[4] | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(3)|Likely benign(3) | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA7725200 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 761080016 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001057269; | Chromosome | 15:89876858..89876859 | ClinVar Allele ID | 842795 | 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.89876861CGC[5] | 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 | 761080016 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002343001; | Chromosome | 15:89876858..89876859 | ClinVar Allele ID | 1809431 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123 | ClinVar preferred disease name | Inborn genetic diseases | HGVS variant names | NC 000015.9:g.89876861CGC[6] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | POLG:5428|POLGARF:125316803 | Molecular consequence | SO:0001820|inframe indel, SO:0001821|inframe insertion | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001351920; RCV003405587; | Chromosome | 15:89876858..89876859 | ClinVar Allele ID | 1032205 | Disease database name and identifier | .|MONDO:MONDO:0008758, MedGen:C0205710, OMIM:203700, Orphanet:726 | ClinVar preferred disease name | POLG-related condition|Progressive sclerosing poliodystrophy | HGVS variant names | NC 000015.9:g.89876860 89876861insTGCCGC | ClinVar review status | criteria provided, multiple submitters, no conflicts | 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 | 776122200 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003035089; | Chromosome | 15:89876858..89876859 | ClinVar Allele ID | 2175683 | 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.89876860 89876861insTGCCGCCGC | 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:0001820|inframe indel, SO:0001821|inframe insertion | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003075315; | Chromosome | 15:89876859..89876864 | ClinVar Allele ID | 1889753 | 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.89876861CGC[1] | 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:0001820|inframe indel, SO:0001822|inframe deletion | Allele origin | germline | 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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