rs1293470
Variant names:
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
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 0.69 ( 19054 hom., 22372 hem., cov: 24)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.16
Publications
2 publications found
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
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: 0.686 AC: 76023AN: 110895Hom.: 19056 Cov.: 24 show subpopulations
GnomAD3 genomes
AF:
AC:
76023
AN:
110895
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 Data not reliable, filtered out with message: InbreedingCoeff AF: 0.686 AC: 76058AN: 110948Hom.: 19054 Cov.: 24 AF XY: 0.673 AC XY: 22372AN XY: 33242 show subpopulations
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
AF:
AC:
76058
AN:
110948
Hom.:
Cov.:
24
AF XY:
AC XY:
22372
AN XY:
33242
show subpopulations
African (AFR)
AF:
AC:
22413
AN:
30576
American (AMR)
AF:
AC:
5557
AN:
10397
Ashkenazi Jewish (ASJ)
AF:
AC:
2083
AN:
2632
East Asian (EAS)
AF:
AC:
802
AN:
3513
South Asian (SAS)
AF:
AC:
1050
AN:
2690
European-Finnish (FIN)
AF:
AC:
4017
AN:
5924
Middle Eastern (MID)
AF:
AC:
158
AN:
212
European-Non Finnish (NFE)
AF:
AC:
38367
AN:
52814
Other (OTH)
AF:
AC:
1062
AN:
1512
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.506
Heterozygous variant carriers
0
841
1682
2522
3363
4204
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
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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