chr3:193643996:G>A Detail (hg38) (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	chr3:193,361,785-193,361,785 View the variant detail on this assembly version.
hg38	chr3:193,643,996-193,643,996

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.1337G>A	NP_570844.1:p.Arg446His
	NM_130833.2:c.1337G>A	NP_570846.1:p.Arg446His
	NM_130837.2:c.1499G>A	NP_570850.2:p.Arg500His
	NM_130835.2:c.1391G>A	NP_570848.1:p.Arg464His
	NM_130832.2:c.1334G>A	NP_570845.1:p.Arg445His
	NM_130834.2:c.1334G>A	NP_570847.2:p.Arg445His
	NM_130836.2:c.1445G>A	NP_570849.2:p.Arg482His
Ensemble	ENST00000361150.6:c.1337G>A	ENST00000361150.6:p.Arg446His
	ENST00000361510.8:c.1499G>A	ENST00000361510.8:p.Arg500His
	ENST00000361715.6:c.1391G>A	ENST00000361715.6:p.Arg464His
	ENST00000361828.7:c.1334G>A	ENST00000361828.7:p.Arg445His
	ENST00000361908.8:c.1445G>A	ENST00000361908.8:p.Arg482His
	ENST00000392436.7:c.1334G>A	ENST00000392436.7:p.Arg445His
	ENST00000392437.6:c.1388G>A	ENST00000392437.6:p.Arg463His
	ENST00000643329.1:c.1016G>A	ENST00000643329.1:p.Arg339His
	ENST00000645553.1:c.1349G>A	ENST00000645553.1:p.Arg450His
	ENST00000646793.1:c.1226G>A	ENST00000646793.1:p.Arg409His

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		optic atrophy	germline	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-11-25	no assertion criteria provided	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	germline unknown	Detail
Pathogenic	2023-04-16	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2017-04-07	no assertion criteria provided	Mitochondrial disease	germline	Detail
Pathogenic	2024-03-14	criteria provided, multiple submitters, no conflicts	Autosomal dominant optic atrophy classic form	germline	Detail
Pathogenic	2023-12-01	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	NA	CLINVAR		Detail
0.017	Sensorineural Hearing Loss (disorder)	Importantly, our data provide the first evidence that a single, recurrent mutati...	BeFree	21538838	Detail
0.004	Sensorineural Hearing Loss (disorder)	Importantly, our data provide the first evidence that a single, recurrent mutati...	BeFree	21538838	Detail
0.006	ophthalmoplegia	We previously described a unique syndrome of optic atrophy, sensorineural hearin...	BeFree	16158427	Detail
0.004	Sensorineural Hearing Loss (disorder)	Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1...	BeFree	16158427	Detail
0.034	optic atrophy	OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.	BeFree	16240368	Detail
0.004	Sensorineural Hearing Loss (disorder)	OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.	BeFree	16240368	Detail
0.526	Optic Atrophy, Autosomal Dominant	The association of autosomal dominant optic atrophy and moderate deafness may be...	BeFree	14644237	Detail

Annotation

Annotations

Descrption	Source	Links
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND Optic atrophy with or without deafness, ophthalmoplegi...	ClinVar	Detail
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND not provided	ClinVar	Detail
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND Mitochondrial disease	ClinVar	Detail
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND Autosomal dominant optic atrophy classic form	ClinVar	Detail
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND OPA1-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V,...	DisGeNET	Detail
Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V,...	DisGeNET	Detail
We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ...	DisGeNET	Detail
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.	DisGeNET	Detail
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.	DisGeNET	Detail
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.	DisGeNET	Detail
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mu...	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: rs80356529 dbSNP
Genome: hg38
Position: chr3:193,643,996-193,643,996
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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