22-40646358-T-TATC
Variant names:
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1
No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.82 ( 51601 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.168
Publications
2 publications found
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.959 is higher than 0.05.
Variant Effect in Transcripts
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.817 AC: 123912AN: 151626Hom.: 51544 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
123912
AN:
151626
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 0.817 AC: 124023AN: 151744Hom.: 51601 Cov.: 0 AF XY: 0.817 AC XY: 60520AN XY: 74118 show subpopulations
GnomAD4 genome
AF:
AC:
124023
AN:
151744
Hom.:
Cov.:
0
AF XY:
AC XY:
60520
AN XY:
74118
show subpopulations
African (AFR)
AF:
AC:
39323
AN:
41440
American (AMR)
AF:
AC:
9351
AN:
15232
Ashkenazi Jewish (ASJ)
AF:
AC:
2841
AN:
3462
East Asian (EAS)
AF:
AC:
5052
AN:
5144
South Asian (SAS)
AF:
AC:
4058
AN:
4818
European-Finnish (FIN)
AF:
AC:
8433
AN:
10510
Middle Eastern (MID)
AF:
AC:
260
AN:
290
European-Non Finnish (NFE)
AF:
AC:
52453
AN:
67842
Other (OTH)
AF:
AC:
1680
AN:
2102
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.501
Heterozygous variant carriers
0
1057
2113
3170
4226
5283
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
870
1740
2610
3480
4350
<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.:
Bravo
AF:
Asia WGS
AF:
AC:
3084
AN:
3470
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
You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.