View genomic variant #0000025161

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.89876849_89876852delinsC
Published as	-
GERP	-
Segregation	-
DB-ID	POLG_000409
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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

Location: Location of variant at DNA level; note that the variant location can also be derived from the variant description.
All options:

5' gene flanking
5' UTR
Exon
Intron
3' UTR
3' gene flanking

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Protein: Description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

PolyPhen: Effect of variant, predicted by PolyPhen.
All options:

benign = Benign
possiblyDamaging = Possibly damaging
probablyDamaging = Probably damaging
noPrediction = No prediction

GVS function: The functional annotation of this position from the Genome Variation Server.
All options:

intergenic
near-gene-5
utr-5
coding
coding-near-splice
coding-synonymous
coding-synonymous-near-splice
codingComplex
codingComplex-near-splice
frameshift
frameshift-near-splice
missense
missense-near-splice
splice-5
intron
splice-3
stop-gained
stop-gained-near-splice
stop-lost
stop-lost-near-splice
utr-3
near-gene-3

Splice distance: The distance to the nearest splice site.

SIFT: SIFT Annotation

2 entries on 1 page. Showing entries 1 - 2.

Legend

Gene	Transcript ID	Transcript	Variant ID	Affects function	Location	Exon	DNA change (cDNA)	Protein	PolyPhen	GVS function	Splice distance	SIFT
POLG	00000266	NM_001126131.1	0000025161	./.	-	-	c.134_137delinsG	p.(Gln45_Gln46delinsArg)	-	-	-	-
POLG	00000267	NM_002693.2	0000025161	./.	-	-	c.134_137delinsG	p.(Gln45_Gln46delinsArg)	-	-	-	-

Legend

ClinVar @ MSeqDR
RCVaccession	RCV000596845; RCV000758405;
Chromosome	15:89876849..89876849
ClinVar Allele ID	489022
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.89876849T>C
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Uncertain significance(3)\|Likely benign(1)
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA10602190
Gene symbol:Gene id.	POLG:5428\|POLGARF:125316803
Molecular consequence	SO:0001583\|missense variant
Allele origin	germline
dbSNP ID	1555454339
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV002043581;
Chromosome 15:89876849..89876850
ClinVar Allele ID 1343077
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.89876850 89876857GCT[2]GCC[3]GCT[2]GC[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:0001821|inframe insertion
Allele origin germline
dbSNP ID 2141816159
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV001218732;
Chromosome 15:89876849..89876850
ClinVar Allele ID 927454
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.89876850 89876860GCT[4]GCCGCTGCTGCTGC[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:0001821|inframe insertion
Allele origin germline
dbSNP ID 2055628450
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV001313839;
Chromosome 15:89876849..89876850
ClinVar Allele ID 1011692
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.89876850 89876860GCT[5]GCC[3]GCTGCCGCTGCTGCTGC[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:0001821|inframe insertion
Allele origin germline
dbSNP ID 2055628450
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000704124;
Chromosome 15:89876849..89876852
ClinVar Allele ID 567336
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.89876849 89876852delinsC
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:0001820|inframe indel
Allele origin germline
dbSNP ID 1567194455
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV002386974;
Chromosome 15:89876849..89876858
ClinVar Allele ID 1818384
Disease database name and identifier MeSH:D030342, MedGen:C0950123
ClinVar preferred disease name Inborn genetic diseases
HGVS variant names NC 000015.9:g.89876849 89876858delinsC
ClinVar review status criteria provided, single submitter
Clinical Significance Likely benign
Variant type Indel
Sequence Ontology for variant type SO:1000032
Gene symbol:Gene id. POLG:5428|POLGARF:125316803
Molecular consequence SO:0001820|inframe indel
Allele origin germline
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000175733; RCV000461738; RCV001711597; RCV002314611;
Chromosome 15:89876852..89876852
Allele frequencies from ExAC 0.00067
Allele frequencies from TGP 0.00459
ClinVar Allele ID 192340
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.89876852T>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:CA302810
Gene symbol:Gene id. POLG:5428|POLGARF:125316803
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 201016638
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000758438;
Chromosome 15:89876852..89876853
ClinVar Allele ID 610805
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.89876854 89876855insCGC
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 1567194472
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV001884026;
Chromosome 15:89876852..89876853
ClinVar Allele ID 1474118
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.89876853 89876854GCC[3]GCTGCCGC[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:0001821|inframe insertion
Allele origin germline
dbSNP ID 1567194472
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV002867208;
Chromosome 15:89876853..89876861
ClinVar Allele ID 2079077
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.89876855 89876863del
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type Deletion
Sequence Ontology for variant type SO:0000159
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

ClinVar @ MSeqDR
RCVaccession RCV002635787;
Chromosome 15:89876853..89876867
ClinVar Allele ID 1982078
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.89876858 89876872del
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type Deletion
Sequence Ontology for variant type SO:0000159
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