chr15:89318595:T>C Detail (hg38) (POLG, FANCI, POLGARF)

Information

Genome

Assembly Position
hg19 chr15:89,861,826-89,861,826 View the variant detail on this assembly version.
hg38 chr15:89,318,595-89,318,595

HGVS

Type Transcript Protein
RefSeq NM_001126131.1:c.3428A>G NP_001119603.1:p.Glu1143Gly
NM_002693.2:c.3428A>G NP_002684.1:p.Glu1143Gly
Ensemble ENST00000268124.11:c.3428A>G ENST00000268124.11:p.Glu1143Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Benign
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 tgv53919458 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-05-06 reviewed by expert panel Mitochondrial disease germline Detail
Benign Likely benign 2022-11-29 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Likely benign 2016-06-14 criteria provided, single submitter Fanconi anemia germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Progressive sclerosing poliodystrophy germline Detail
Benign 2023-11-29 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Benign 2021-08-03 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Benign 2021-08-03 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Benign 2021-08-03 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Benign 2021-08-03 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Benign 2021-08-03 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
Benign 2021-08-03 criteria provided, single submitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 unknown Detail
not provided no assertion provided Association with valproate-induced liver toxicity unknown Detail
Likely benign 2017-04-27 criteria provided, single submitter POLG-Related Spectrum Disorders germline Detail
Benign 2021-08-29 criteria provided, single submitter hereditary spastic paraplegia germline Detail
Benign 2016-03-21 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Ataxia Neuropathy Spectrum The W748S mutation in POLG is the most common mutation in ataxia-neuropathy spec... BeFree 17088268 Detail
0.007 Ataxia In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a n... BeFree 20153822 Detail
0.001 Liver failure A heterozygous POLG1 p.Q1236H mutation was related to valproate-induced liver fa... BeFree 25065347 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND Mitochondrial disease ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND not specified ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND Fanconi anemia ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND Progressive sclerosing poliodystrophy ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND not provided ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND multiple conditions ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND Association with valproate-induced liver toxicity ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND POLG-Related Spectrum Disorders ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND Hereditary spastic paraplegia ClinVar Detail
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) AND Inborn genetic diseases ClinVar Detail
The W748S mutation in POLG is the most common mutation in ataxia-neuropathy spectrum disorders and i... DisGeNET Detail
In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive... DisGeNET Detail
A heterozygous POLG1 p.Q1236H mutation was related to valproate-induced liver failure without mtDNA ... 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
rs2307441 dbSNP
Genome
hg38
Position
chr15:89,318,595-89,318,595
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1056
Mean of sample read depth (HGVD)
24.10
Standard deviation of sample read depth (HGVD)
13.40
Number of reference allele (HGVD)
2111
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.734848484848485E-4
Gene Symbol (HGVD)
POLG
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.313208420078649E-4
Chromosome Counts in All Race (ExAC)
121226
Allele Counts in All Race (ExAC)
3410
Heterozygous Counts in All Race (ExAC)
3280
Homozygous Counts in All Race (ExAC)
65
Allele Frequency in All Race (ExAC)
0.028129279197531883
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