9-133631747-GGTGTGTGTGTGTGTGT-GGTGTGTGTGTGTGT
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The ENST00000564021.1(ENSG00000261018):n.113+1238_113+1239delAC 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 0.0028 ( 1 hom., cov: 0)
Consequence
ENSG00000261018
ENST00000564021.1 intron
ENST00000564021.1 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.11
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+1238_113+1239delAC | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes 0.00283 AC: 424AN: 149618Hom.: 1 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
424
AN:
149618
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 0.00283 AC: 424AN: 149718Hom.: 1 Cov.: 0 AF XY: 0.00275 AC XY: 201AN XY: 72970 show subpopulations
GnomAD4 genome
AF:
AC:
424
AN:
149718
Hom.:
Cov.:
0
AF XY:
AC XY:
201
AN XY:
72970
show subpopulations
African (AFR)
AF:
AC:
44
AN:
40706
American (AMR)
AF:
AC:
15
AN:
15082
Ashkenazi Jewish (ASJ)
AF:
AC:
2
AN:
3446
East Asian (EAS)
AF:
AC:
31
AN:
5038
South Asian (SAS)
AF:
AC:
20
AN:
4682
European-Finnish (FIN)
AF:
AC:
28
AN:
10248
Middle Eastern (MID)
AF:
AC:
0
AN:
288
European-Non Finnish (NFE)
AF:
AC:
280
AN:
67248
Other (OTH)
AF:
AC:
4
AN:
2070
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.492
Heterozygous variant carriers
0
20
40
61
81
101
0.00
0.20
0.40
0.60
0.80
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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