rs11301693
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1
The ENST00000812526.1(ENSG00000305706):n.217+4515delT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0636 in 152,184 control chromosomes in the GnomAD database, including 811 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.064 ( 811 hom., cov: 32)
Consequence
ENSG00000305706
ENST00000812526.1 intron
ENST00000812526.1 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.352
Publications
0 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -8 ACMG points.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.18 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 |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000305706 | ENST00000812526.1 | n.217+4515delT | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.0634 AC: 9644AN: 152068Hom.: 806 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
9644
AN:
152068
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: 0.0636 AC: 9677AN: 152184Hom.: 811 Cov.: 32 AF XY: 0.0621 AC XY: 4619AN XY: 74404 show subpopulations
GnomAD4 genome
AF:
AC:
9677
AN:
152184
Hom.:
Cov.:
32
AF XY:
AC XY:
4619
AN XY:
74404
show subpopulations
African (AFR)
AF:
AC:
7591
AN:
41476
American (AMR)
AF:
AC:
360
AN:
15290
Ashkenazi Jewish (ASJ)
AF:
AC:
96
AN:
3470
East Asian (EAS)
AF:
AC:
370
AN:
5176
South Asian (SAS)
AF:
AC:
237
AN:
4830
European-Finnish (FIN)
AF:
AC:
42
AN:
10606
Middle Eastern (MID)
AF:
AC:
8
AN:
294
European-Non Finnish (NFE)
AF:
AC:
850
AN:
68018
Other (OTH)
AF:
AC:
119
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.499
Heterozygous variant carriers
0
388
777
1165
1554
1942
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
229
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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