rs7705033
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 0.324 in 151,920 control chromosomes in the GnomAD database, including 8,242 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 0.32 ( 8242 hom., cov: 32)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0490
Publications
9 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 = 0.391 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: 0.324 AC: 49136AN: 151802Hom.: 8208 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
49136
AN:
151802
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: 0.324 AC: 49212AN: 151920Hom.: 8242 Cov.: 32 AF XY: 0.326 AC XY: 24183AN XY: 74234 show subpopulations
GnomAD4 genome
AF:
AC:
49212
AN:
151920
Hom.:
Cov.:
32
AF XY:
AC XY:
24183
AN XY:
74234
show subpopulations
African (AFR)
AF:
AC:
16391
AN:
41402
American (AMR)
AF:
AC:
4930
AN:
15268
Ashkenazi Jewish (ASJ)
AF:
AC:
716
AN:
3472
East Asian (EAS)
AF:
AC:
2036
AN:
5174
South Asian (SAS)
AF:
AC:
1832
AN:
4800
European-Finnish (FIN)
AF:
AC:
3475
AN:
10548
Middle Eastern (MID)
AF:
AC:
72
AN:
292
European-Non Finnish (NFE)
AF:
AC:
18910
AN:
67940
Other (OTH)
AF:
AC:
683
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.502
Heterozygous variant carriers
0
1638
3276
4914
6552
8190
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
1614
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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