chr3:193361167:A>G Detail (hg19) (OPA1)

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

Genome

Assembly	Position
hg19	chr3:193,361,167-193,361,167
hg38	chr3:193,643,378-193,643,378 View the variant detail on this assembly version.

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.1149A>G	NP_570844.1:p.Ile383Met
	NM_130833.2:c.1149A>G	NP_570846.1:p.Ile383Met
	NM_130837.2:c.1311A>G	NP_570850.2:p.Ile437Met
	NM_130835.2:c.1203A>G	NP_570848.1:p.Ile401Met
	NM_130832.2:c.1146A>G	NP_570845.1:p.Ile382Met
	NM_130834.2:c.1146A>G	NP_570847.2:p.Ile382Met
	NM_130836.2:c.1257A>G	NP_570849.2:p.Ile419Met
Ensemble	ENST00000361150.6:c.1149A>G	ENST00000361150.6:p.Ile383Met
	ENST00000361510.8:c.1311A>G	ENST00000361510.8:p.Ile437Met
	ENST00000361715.6:c.1203A>G	ENST00000361715.6:p.Ile401Met
	ENST00000361828.7:c.1146A>G	ENST00000361828.7:p.Ile382Met
	ENST00000361908.8:c.1257A>G	ENST00000361908.8:p.Ile419Met
	ENST00000392436.7:c.1146A>G	ENST00000392436.7:p.Ile382Met
	ENST00000392437.6:c.1200A>G	ENST00000392437.6:p.Ile400Met
	ENST00000643329.1:c.828A>G	ENST00000643329.1:p.Ile276Met
	ENST00000645553.1:c.1161A>G	ENST00000645553.1:p.Ile387Met
	ENST00000646793.1:c.1038A>G	ENST00000646793.1:p.Ile346Met

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	Conflicting classifications of pathogenicity
Review star
Show details

Links

OPA1

Type	Database	ID	Link
Gene	MIM	605290	OMIM
	HGNC	8140	HGNC
	Ensembl	ENSG00000198836	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
Uncertain significance	2020-03-21	criteria provided, multiple submitters, no conflicts	Autosomal dominant optic atrophy classic form	germline unknown	Detail
Conflicting interpretations of pathogenicity	2024-01-29	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Pathogenic Likely pathogenic	2023-04-05	criteria provided, multiple submitters, no conflicts	Abortive cerebellar ataxia	germline unknown	Detail
Uncertain significance		criteria provided, single submitter	Optic nerve hypoplasia	paternal	Detail
Uncertain significance	2017-09-20	criteria provided, single submitter	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy,Abortive cerebellar ataxia,Autosomal dominant optic atrophy classic form	germline	Detail
Uncertain significance	2017-09-20	criteria provided, single submitter	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy,Abortive cerebellar ataxia,Autosomal dominant optic atrophy classic form	germline	Detail
Uncertain significance	2017-09-20	criteria provided, single submitter	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy,Abortive cerebellar ataxia,Autosomal dominant optic atrophy classic form	germline	Detail
Pathogenic	2020-03-16	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Uncertain significance	2024-02-06	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2023-12-12	criteria provided, single submitter	OPA1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	OPTIC ATROPHY 1 AND DEAFNESS	NA	CLINVAR		Detail
0.526	Optic Atrophy, Autosomal Dominant	The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, in...	UNIPROT	19319978	Detail
0.526	Optic Atrophy, Autosomal Dominant	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND Autosomal dominant optic atrophy classic form	ClinVar	Detail
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND not provided	ClinVar	Detail
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND Abortive cerebellar ataxia	ClinVar	Detail
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND Optic nerve hypoplasia	ClinVar	Detail
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND multiple conditions	ClinVar	Detail
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND multiple conditions	ClinVar	Detail
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND multiple conditions	ClinVar	Detail
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND Inborn genetic diseases	ClinVar	Detail
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND not specified	ClinVar	Detail
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND OPA1-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA...	DisGeNET	Detail
NA	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: rs143319805 dbSNP
Genome: hg19
Position: chr3:193,361,167-193,361,167
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8628
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): 120454
Allele Counts in All Race (ExAC): 73
Heterozygous Counts in All Race (ExAC): 73
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.060404801833065E-4

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