chr15:89859994:C>A Detail (hg19) (POLG, FANCI, POLGARF)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr15:89,859,994-89,859,994
hg38	chr15:89,316,763-89,316,763 View the variant detail on this assembly version.

HGVS

FANCI
POLG

Type	Transcript	Protein
RefSeq	NM_018193.2:c.*304C>A
	NM_001113378.1:c.*304C>A
Ensemble	ENST00000696718.1:c.*304C>A
	ENST00000696719.1:c.*304C>A
	ENST00000696717.1:c.*304C>A
	ENST00000676003.1:c.*304C>A
	ENST00000300027.12:c.*304C>A
	ENST00000310775.12:c.*304C>A

Type	Transcript	Protein
RefSeq	NM_001126131.1:c.3708G>T	NP_001119603.1:p.Gln1236His
	NM_002693.2:c.3708G>T	NP_002684.1:p.Gln1236His
Ensemble	ENST00000442287.6:c.3708G>T	ENST00000442287.6:p.Gln1236His
	ENST00000268124.11:c.3708G>T	ENST00000268124.11:p.Gln1236His
	ENST00000636937.2:c.3708G>T	ENST00000636937.2:p.Gln1236His

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	Benign Likely benign
Review star
Show details

Links

FANCI
POLG

Type	Database	ID	Link
Gene	MIM	611360	OMIM
	HGNC	25568	HGNC
	Ensembl	ENSG00000140525	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2020-03-02	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	2018-03-06	criteria provided, single submitter	POLG-Related Spectrum Disorders	germline	Detail
Benign	2015-03-03	criteria provided, single submitter	not provided	germline unknown	Detail
Benign	2020-12-04	criteria provided, multiple submitters, no conflicts	Progressive sclerosing poliodystrophy	germline	Detail
Benign	2023-10-26	criteria provided, multiple submitters, no conflicts	Fanconi anemia complementation group I	germline	Detail
Benign	2021-12-18	criteria provided, single submitter	hereditary spastic paraplegia	germline	Detail
Benign	2016-03-15	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Benign	2021-11-19	criteria provided, single submitter	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	unknown	Detail
Benign	2021-11-19	criteria provided, single submitter	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	unknown	Detail
Benign	2021-11-19	criteria provided, single submitter	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	unknown	Detail
Benign	2021-11-19	criteria provided, single submitter	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	unknown	Detail
Benign	2021-11-19	criteria provided, single submitter	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	unknown	Detail
Benign	2021-11-19	criteria provided, single submitter	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 1,mitochondrial DNA depletion syndrome 4b,Progressive sclerosing poliodystrophy,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.001	Liver failure	A heterozygous POLG1 p.Q1236H mutation was related to valproate-induced liver fa...	BeFree	25065347	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND not specified	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND Fanconi anemia	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND POLG-Related Spectrum Disorders	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND not provided	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND Progressive sclerosing poliodystrophy	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND Fanconi anemia complementation group I	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND Hereditary spastic paraplegia	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND Inborn genetic diseases	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND multiple conditions	ClinVar	Detail
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) AND multiple conditions	ClinVar	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: rs3087374 dbSNP
Genome: hg19
Position: chr15:89,859,994-89,859,994
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121358
Allele Counts in All Race (ExAC): 7447
Heterozygous Counts in All Race (ExAC): 6751
Homozygous Counts in All Race (ExAC): 348
Allele Frequency in All Race (ExAC): 0.061363898548097366

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