chr11-118680517-GA-G
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 0.35 ( 9409 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.00
Publications
4 publications found
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.463 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 0.346 AC: 52550AN: 151708Hom.: 9387 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
52550
AN:
151708
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 0.347 AC: 52616AN: 151826Hom.: 9409 Cov.: 0 AF XY: 0.345 AC XY: 25593AN XY: 74182 show subpopulations
GnomAD4 genome
AF:
AC:
52616
AN:
151826
Hom.:
Cov.:
0
AF XY:
AC XY:
25593
AN XY:
74182
show subpopulations
African (AFR)
AF:
AC:
14130
AN:
41400
American (AMR)
AF:
AC:
7199
AN:
15238
Ashkenazi Jewish (ASJ)
AF:
AC:
1270
AN:
3472
East Asian (EAS)
AF:
AC:
2272
AN:
5134
South Asian (SAS)
AF:
AC:
945
AN:
4812
European-Finnish (FIN)
AF:
AC:
3283
AN:
10542
Middle Eastern (MID)
AF:
AC:
108
AN:
294
European-Non Finnish (NFE)
AF:
AC:
22226
AN:
67912
Other (OTH)
AF:
AC:
744
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.496
Heterozygous variant carriers
0
1697
3395
5092
6790
8487
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
496
992
1488
1984
2480
<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:
1061
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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