chr16-68736795-G-GAAA
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 0.022 ( 124 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.752
Publications
1 publications found
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.074 is higher than 0.05.
Variant Effect in Transcripts
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
There are no transcript annotations for this variant. | |||||||||
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
There are no transcript annotations for this variant. | |||||||||
Frequencies
GnomAD3 genomes 0.0219 AC: 3288AN: 150220Hom.: 124 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
3288
AN:
150220
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 0.0219 AC: 3295AN: 150334Hom.: 124 Cov.: 0 AF XY: 0.0210 AC XY: 1536AN XY: 73310 show subpopulations
GnomAD4 genome
AF:
AC:
3295
AN:
150334
Hom.:
Cov.:
0
AF XY:
AC XY:
1536
AN XY:
73310
show subpopulations
African (AFR)
AF:
AC:
3116
AN:
40878
American (AMR)
AF:
AC:
132
AN:
15142
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3446
East Asian (EAS)
AF:
AC:
0
AN:
5056
South Asian (SAS)
AF:
AC:
0
AN:
4700
European-Finnish (FIN)
AF:
AC:
0
AN:
10260
Middle Eastern (MID)
AF:
AC:
2
AN:
294
European-Non Finnish (NFE)
AF:
AC:
10
AN:
67564
Other (OTH)
AF:
AC:
35
AN:
2090
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.482
Heterozygous variant carriers
0
134
268
401
535
669
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
34
68
102
136
170
<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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