12-69111744-TAA-TAAA
Variant names:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The variant allele was found at a frequency of 0.00164 in 151,634 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0016 ( 0 hom., cov: 26)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.00
Publications
1 publications found
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ACMG classification
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 |
|---|
Frequencies
GnomAD3 genomes 0.00164 AC: 248AN: 151518Hom.: 0 Cov.: 26 show subpopulations
GnomAD3 genomes
AF:
AC:
248
AN:
151518
Hom.:
Cov.:
26
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 0.00164 AC: 248AN: 151634Hom.: 0 Cov.: 26 AF XY: 0.00139 AC XY: 103AN XY: 74056 show subpopulations
GnomAD4 genome
AF:
AC:
248
AN:
151634
Hom.:
Cov.:
26
AF XY:
AC XY:
103
AN XY:
74056
show subpopulations
African (AFR)
AF:
AC:
211
AN:
41334
American (AMR)
AF:
AC:
9
AN:
15204
Ashkenazi Jewish (ASJ)
AF:
AC:
3
AN:
3468
East Asian (EAS)
AF:
AC:
1
AN:
5170
South Asian (SAS)
AF:
AC:
1
AN:
4792
European-Finnish (FIN)
AF:
AC:
0
AN:
10476
Middle Eastern (MID)
AF:
AC:
1
AN:
294
European-Non Finnish (NFE)
AF:
AC:
19
AN:
67886
Other (OTH)
AF:
AC:
3
AN:
2102
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.486
Heterozygous variant carriers
0
11
21
32
42
53
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Variant carriers
0
4
8
12
16
20
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
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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