rs17148729
Variant names:
Your query was ambiguous. Multiple possible variants found:
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 0.298 in 151,716 control chromosomes in the GnomAD database, including 6,997 homozygotes. There are 21,944 hemizygotes in GnomAD. 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 0.30 ( 6997 hom., 21944 hem., cov: 30)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0360
Publications
0 publications found
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.334 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 |
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Frequencies
GnomAD3 genomes AF: 0.299 AC: 45254AN: 151596Hom.: 7005 Cov.: 30 show subpopulations
GnomAD3 genomes
AF:
AC:
45254
AN:
151596
Hom.:
Cov.:
30
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: 0.298 AC: 45256AN: 151716Hom.: 6997 Cov.: 30 AF XY: 0.296 AC XY: 21944AN XY: 74108 show subpopulations
GnomAD4 genome
AF:
AC:
45256
AN:
151716
Hom.:
Cov.:
30
AF XY:
AC XY:
21944
AN XY:
74108
show subpopulations
African (AFR)
AF:
AC:
10051
AN:
41404
American (AMR)
AF:
AC:
4800
AN:
15210
Ashkenazi Jewish (ASJ)
AF:
AC:
1185
AN:
3460
East Asian (EAS)
AF:
AC:
1751
AN:
5122
South Asian (SAS)
AF:
AC:
1666
AN:
4788
European-Finnish (FIN)
AF:
AC:
2697
AN:
10544
Middle Eastern (MID)
AF:
AC:
128
AN:
294
European-Non Finnish (NFE)
AF:
AC:
22097
AN:
67878
Other (OTH)
AF:
AC:
638
AN:
2108
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.499
Heterozygous variant carriers
0
1562
3124
4687
6249
7811
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
468
936
1404
1872
2340
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Bravo
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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