chr3:193667170:TTAG> Detail (hg38) (OPA1)

Information

Genome

Assembly Position
hg19 chr3:193,384,959-193,384,962 
hg38 chr3:193,667,170-193,667,173

HGVS

Type Transcript Protein
RefSeq NM_130831.2:c.2711_2714delTTAG NP_570844.1:p.Val904GlyfsTer3
NM_130833.2:c.2711_2714delTTAG NP_570846.1:p.Val904GlyfsTer3
NM_130837.2:c.2873_2876delTTAG NP_570850.2:p.Val958GlyfsTer3
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 Likely pathogenic
Review star
Show details
Links
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
Pathogenic Likely pathogenic 2023-08-23 criteria provided, multiple submitters, no conflicts Autosomal dominant optic atrophy classic form germline maternal unknown Detail
Pathogenic 2024-01-26 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2011-08-01 no assertion criteria provided Abortive cerebellar ataxia germline Detail
Pathogenic 2017-04-07 no assertion criteria provided Mitochondrial disease germline Detail
Pathogenic 2017-10-12 criteria provided, single submitter Retinal dystrophy germline Detail
Likely pathogenic criteria provided, single submitter Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy germline Detail
Pathogenic 2021-10-04 criteria provided, single submitter unknown Detail
Pathogenic 2021-07-22 criteria provided, single submitter Autosomal dominant optic atrophy classic form,Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy,Glaucoma, normal tension, susceptibility to,Abortive cerebellar ataxia,Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) unknown Detail
Pathogenic 2021-07-22 criteria provided, single submitter Autosomal dominant optic atrophy classic form,Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy,Glaucoma, normal tension, susceptibility to,Abortive cerebellar ataxia,Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) unknown Detail
Pathogenic 2021-07-22 criteria provided, single submitter Autosomal dominant optic atrophy classic form,Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy,Glaucoma, normal tension, susceptibility to,Abortive cerebellar ataxia,Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) unknown Detail
Pathogenic 2021-07-22 criteria provided, single submitter Autosomal dominant optic atrophy classic form,Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy,Glaucoma, normal tension, susceptibility to,Abortive cerebellar ataxia,Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) unknown Detail
Pathogenic 2021-07-22 criteria provided, single submitter Autosomal dominant optic atrophy classic form,Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy,Glaucoma, normal tension, susceptibility to,Abortive cerebellar ataxia,Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) unknown Detail
Likely pathogenic 2022-11-23 no assertion criteria provided germline Detail
Pathogenic 2023-08-31 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
Annotation

Annotations

DescrptionSourceLinks
NM_130837.3(OPA1):c.2873_2876del AND Autosomal dominant optic atrophy classic form ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND not provided ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND Abortive cerebellar ataxia ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND Mitochondrial disease ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND Retinal dystrophy ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND Optic atrophy with or without deafness, ophthalmoplegia, myopat... ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND Optic nerve dysplasia ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND multiple conditions ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND multiple conditions ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND multiple conditions ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND multiple conditions ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND multiple conditions ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND Tip-toe gait ClinVar Detail
NM_130837.3(OPA1):c.2873_2876del AND OPA1-related disorder ClinVar Detail
NA 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
rs80356530 dbSNP
Genome
hg38
Position
chr3:193,667,170-193,667,173
Variant Type
snv
Reference Allele
TTAG
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8504
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)
118722
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.369215478175907E-5
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