chr11-33256373-C-CAGAA
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 0.70 ( 37577 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.157
Publications
2 publications found
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.714 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 0.703 AC: 106527AN: 151468Hom.: 37535 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
106527
AN:
151468
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 0.703 AC: 106630AN: 151586Hom.: 37577 Cov.: 0 AF XY: 0.701 AC XY: 51922AN XY: 74042 show subpopulations
GnomAD4 genome
AF:
AC:
106630
AN:
151586
Hom.:
Cov.:
0
AF XY:
AC XY:
51922
AN XY:
74042
show subpopulations
African (AFR)
AF:
AC:
29405
AN:
41308
American (AMR)
AF:
AC:
10431
AN:
15238
Ashkenazi Jewish (ASJ)
AF:
AC:
2325
AN:
3466
East Asian (EAS)
AF:
AC:
3074
AN:
5156
South Asian (SAS)
AF:
AC:
3086
AN:
4816
European-Finnish (FIN)
AF:
AC:
7283
AN:
10456
Middle Eastern (MID)
AF:
AC:
207
AN:
292
European-Non Finnish (NFE)
AF:
AC:
48796
AN:
67842
Other (OTH)
AF:
AC:
1501
AN:
2106
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.505
Heterozygous variant carriers
0
1624
3248
4873
6497
8121
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
826
1652
2478
3304
4130
<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.:
Asia WGS
AF:
AC:
2294
AN:
3478
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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