rs963251
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 0.578 in 149,826 control chromosomes in the GnomAD database, including 28,475 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 0.58 ( 28475 hom., cov: 30)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.252
Publications
1 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=-0.89).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.691 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: 0.579 AC: 86627AN: 149710Hom.: 28464 Cov.: 30 show subpopulations
GnomAD3 genomes
AF:
AC:
86627
AN:
149710
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: 0.578 AC: 86660AN: 149826Hom.: 28475 Cov.: 30 AF XY: 0.578 AC XY: 42292AN XY: 73114 show subpopulations
GnomAD4 genome
AF:
AC:
86660
AN:
149826
Hom.:
Cov.:
30
AF XY:
AC XY:
42292
AN XY:
73114
show subpopulations
African (AFR)
AF:
AC:
13088
AN:
40820
American (AMR)
AF:
AC:
9765
AN:
14974
Ashkenazi Jewish (ASJ)
AF:
AC:
1784
AN:
3422
East Asian (EAS)
AF:
AC:
3249
AN:
5062
South Asian (SAS)
AF:
AC:
2525
AN:
4716
European-Finnish (FIN)
AF:
AC:
7281
AN:
10336
Middle Eastern (MID)
AF:
AC:
161
AN:
286
European-Non Finnish (NFE)
AF:
AC:
46829
AN:
67266
Other (OTH)
AF:
AC:
1215
AN:
2040
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.500
Heterozygous variant carriers
0
1518
3035
4553
6070
7588
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
700
1400
2100
2800
3500
<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:
1932
AN:
3454
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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