rs2542151
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 0.831 in 152,208 control chromosomes in the GnomAD database, including 52,673 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 0.83 ( 52673 hom., cov: 32)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.436
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=-1.0).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.845 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: 0.831 AC: 126378AN: 152090Hom.: 52623 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
126378
AN:
152090
Hom.:
Cov.:
32
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: 0.831 AC: 126486AN: 152208Hom.: 52673 Cov.: 32 AF XY: 0.831 AC XY: 61863AN XY: 74426 show subpopulations
GnomAD4 genome
AF:
AC:
126486
AN:
152208
Hom.:
Cov.:
32
AF XY:
AC XY:
61863
AN XY:
74426
Gnomad4 AFR
AF:
AC:
0.792371
AN:
0.792371
Gnomad4 AMR
AF:
AC:
0.857348
AN:
0.857348
Gnomad4 ASJ
AF:
AC:
0.90634
AN:
0.90634
Gnomad4 EAS
AF:
AC:
0.832043
AN:
0.832043
Gnomad4 SAS
AF:
AC:
0.8139
AN:
0.8139
Gnomad4 FIN
AF:
AC:
0.860524
AN:
0.860524
Gnomad4 NFE
AF:
AC:
0.839064
AN:
0.839064
Gnomad4 OTH
AF:
AC:
0.845936
AN:
0.845936
Heterozygous variant carriers
0
1097
2194
3292
4389
5486
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
888
1776
2664
3552
4440
<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:
2839
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