rs8106239
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The variant allele was found at a frequency of 0.23 in 152,034 control chromosomes in the GnomAD database, including 4,245 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.23 ( 4245 hom., cov: 31)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.181
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.94).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.323 is higher than 0.05.
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 AF: 0.230 AC: 34925AN: 151916Hom.: 4245 Cov.: 31 show subpopulations
GnomAD3 genomes
AF:
AC:
34925
AN:
151916
Hom.:
Cov.:
31
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 AF: 0.230 AC: 34930AN: 152034Hom.: 4245 Cov.: 31 AF XY: 0.226 AC XY: 16773AN XY: 74318 show subpopulations
GnomAD4 genome
AF:
AC:
34930
AN:
152034
Hom.:
Cov.:
31
AF XY:
AC XY:
16773
AN XY:
74318
Gnomad4 AFR
AF:
AC:
0.235982
AN:
0.235982
Gnomad4 AMR
AF:
AC:
0.323329
AN:
0.323329
Gnomad4 ASJ
AF:
AC:
0.159838
AN:
0.159838
Gnomad4 EAS
AF:
AC:
0.33572
AN:
0.33572
Gnomad4 SAS
AF:
AC:
0.0756633
AN:
0.0756633
Gnomad4 FIN
AF:
AC:
0.141588
AN:
0.141588
Gnomad4 NFE
AF:
AC:
0.226543
AN:
0.226543
Gnomad4 OTH
AF:
AC:
0.237666
AN:
0.237666
Heterozygous variant carriers
0
1341
2682
4022
5363
6704
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
356
712
1068
1424
1780
<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:
623
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at