chr3:193377336:C>T Detail (hg19) (OPA1)

Information

Genome

Assembly Position
hg19 chr3:193,377,336-193,377,336
hg38 chr3:193,659,547-193,659,547 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_130831.2:c.2344C>T NP_570844.1:p.Arg782Trp
NM_130833.2:c.2344C>T NP_570846.1:p.Arg782Trp
NM_130837.2:c.2506C>T NP_570850.2:p.Arg836Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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
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 tgv15600609 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Autosomal dominant optic atrophy classic form germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.526 Optic Atrophy, Autosomal Dominant The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, in... UNIPROT 19319978 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp) AND not provided ClinVar Detail
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp) AND Autosomal dominant optic atrophy classic form ClinVar Detail
The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA... 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
rs190235251 dbSNP
Genome
hg19
Position
chr3:193,377,336-193,377,336
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs190235251
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7206
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)
97646
Allele Counts in All Race (ExAC)
19
Heterozygous Counts in All Race (ExAC)
19
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.94580423161215E-4
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