9-133631747-GGTGTGTGTGTGTGTGT-GGTGTGT
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The ENST00000564021.1(ENSG00000261018):n.113+1230_113+1239delACACACACAC variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00031 ( 0 hom., cov: 0)
Consequence
ENSG00000261018
ENST00000564021.1 intron
ENST00000564021.1 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.35
Publications
0 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000261018 | ENST00000564021.1 | n.113+1230_113+1239delACACACACAC | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes 0.000307 AC: 46AN: 149786Hom.: 0 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
46
AN:
149786
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.000307 AC: 46AN: 149888Hom.: 0 Cov.: 0 AF XY: 0.000246 AC XY: 18AN XY: 73060 show subpopulations
GnomAD4 genome
AF:
AC:
46
AN:
149888
Hom.:
Cov.:
0
AF XY:
AC XY:
18
AN XY:
73060
show subpopulations
African (AFR)
AF:
AC:
45
AN:
40714
American (AMR)
AF:
AC:
0
AN:
15098
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3446
East Asian (EAS)
AF:
AC:
0
AN:
5040
South Asian (SAS)
AF:
AC:
0
AN:
4682
European-Finnish (FIN)
AF:
AC:
0
AN:
10324
Middle Eastern (MID)
AF:
AC:
0
AN:
288
European-Non Finnish (NFE)
AF:
AC:
0
AN:
67312
Other (OTH)
AF:
AC:
1
AN:
2074
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.549
Heterozygous variant carriers
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0.95
Allele balance
Age Distribution
Genome Het
Variant carriers
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Age
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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