rs17410
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 0.478 in 111,420 control chromosomes in the GnomAD database, including 9,360 homozygotes. There are 15,732 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 0.48 ( 9360 hom., 15732 hem., cov: 24)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.306
Publications
2 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=-0.92).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.611 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: 0.478 AC: 53190AN: 111367Hom.: 9356 Cov.: 24 show subpopulations
GnomAD3 genomes
AF:
AC:
53190
AN:
111367
Hom.:
Cov.:
24
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: 0.478 AC: 53246AN: 111420Hom.: 9360 Cov.: 24 AF XY: 0.467 AC XY: 15732AN XY: 33676 show subpopulations
GnomAD4 genome
AF:
AC:
53246
AN:
111420
Hom.:
Cov.:
24
AF XY:
AC XY:
15732
AN XY:
33676
show subpopulations
African (AFR)
AF:
AC:
18973
AN:
30681
American (AMR)
AF:
AC:
5106
AN:
10657
Ashkenazi Jewish (ASJ)
AF:
AC:
1031
AN:
2631
East Asian (EAS)
AF:
AC:
1176
AN:
3480
South Asian (SAS)
AF:
AC:
995
AN:
2669
European-Finnish (FIN)
AF:
AC:
2691
AN:
6065
Middle Eastern (MID)
AF:
AC:
66
AN:
216
European-Non Finnish (NFE)
AF:
AC:
22329
AN:
52818
Other (OTH)
AF:
AC:
753
AN:
1528
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.501
Heterozygous variant carriers
0
1002
2004
3006
4008
5010
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
502
1004
1506
2008
2510
<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:
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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