chr15:89862217:G>A Detail (hg19) (POLG, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,862,217-89,862,217
hg38 chr15:89,318,986-89,318,986 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.3218C>T NP_001119603.1:p.Pro1073Leu
NM_002693.2:c.3218C>T NP_002684.1:p.Pro1073Leu
Ensemble ENST00000636937.2:c.3218C>T ENST00000636937.2:p.Pro1073Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 174763 OMIM
HGNC 9179 HGNC
Ensembl ENSG00000140521 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6752077 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-23 criteria provided, multiple submitters, no conflicts Progressive sclerosing poliodystrophy germline unknown Detail
Pathogenic 2010-02-01 no assertion criteria provided mitochondrial DNA depletion syndrome 4b germline Detail
Pathogenic 2020-02-07 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) NA CLINVAR Detail
0.489 Alpers Syndrome (disorder) NA CLINVAR Detail
0.140 Diffuse Cerebral Sclerosis of Schilder The heterozygous presence of the novel p.P1073L mutation in trans with another r... BeFree 20142534 Detail
0.489 Alpers Syndrome (disorder) The heterozygous presence of the novel p.P1073L mutation in trans with another r... BeFree 20142534 Detail
<0.001 hepatic encephalopathy To describe a novel POLG missense mutation (c.3218C&gt;T; p.P1073L) that, in ass... BeFree 20142534 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) AND Mitochondrial DNA depletion syndrome 4b ClinVar Detail
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) AND not provided ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutati... DisGeNET Detail
The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutati... DisGeNET Detail
To describe a novel POLG missense mutation (c.3218C&gt;T; p.P1073L) that, in association with 2 prev... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267606959 dbSNP
Genome
hg19
Position
chr15:89,862,217-89,862,217
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.311604253351826E-4
Chromosome Counts in All Race (ExAC)
121212
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.65000165000165E-5
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