rs7301722
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 0.339 in 151,648 control chromosomes in the GnomAD database, including 8,602 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 0.34 ( 8602 hom., cov: 32)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.18
Publications
3 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=-0.79).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.355 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: 0.339 AC: 51354AN: 151534Hom.: 8585 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
51354
AN:
151534
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: 0.339 AC: 51403AN: 151648Hom.: 8602 Cov.: 32 AF XY: 0.340 AC XY: 25211AN XY: 74066 show subpopulations
GnomAD4 genome
AF:
AC:
51403
AN:
151648
Hom.:
Cov.:
32
AF XY:
AC XY:
25211
AN XY:
74066
show subpopulations
African (AFR)
AF:
AC:
14886
AN:
41358
American (AMR)
AF:
AC:
4924
AN:
15268
Ashkenazi Jewish (ASJ)
AF:
AC:
1170
AN:
3454
East Asian (EAS)
AF:
AC:
1494
AN:
5124
South Asian (SAS)
AF:
AC:
1141
AN:
4814
European-Finnish (FIN)
AF:
AC:
4467
AN:
10496
Middle Eastern (MID)
AF:
AC:
75
AN:
292
European-Non Finnish (NFE)
AF:
AC:
22216
AN:
67834
Other (OTH)
AF:
AC:
695
AN:
2108
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.495
Heterozygous variant carriers
0
1718
3436
5154
6872
8590
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
506
1012
1518
2024
2530
<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:
946
AN:
3478
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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