rs11692860
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_StrongBS2
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 0.0015 ( 2 hom., cov: 18)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.950
Publications
2 publications found
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.65).
BS2
High Homozygotes in GnomAd4 at 2 gene
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 0.00146 AC: 155AN: 105822Hom.: 2 Cov.: 18 show subpopulations
GnomAD3 genomes
AF:
AC:
155
AN:
105822
Hom.:
Cov.:
18
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 0.00146 AC: 155AN: 105864Hom.: 2 Cov.: 18 AF XY: 0.00147 AC XY: 72AN XY: 49110 show subpopulations
GnomAD4 genome
AF:
AC:
155
AN:
105864
Hom.:
Cov.:
18
AF XY:
AC XY:
72
AN XY:
49110
show subpopulations
African (AFR)
AF:
AC:
4
AN:
29670
American (AMR)
AF:
AC:
7
AN:
7700
Ashkenazi Jewish (ASJ)
AF:
AC:
3
AN:
2770
East Asian (EAS)
AF:
AC:
0
AN:
3398
South Asian (SAS)
AF:
AC:
5
AN:
3216
European-Finnish (FIN)
AF:
AC:
1
AN:
4092
Middle Eastern (MID)
AF:
AC:
0
AN:
164
European-Non Finnish (NFE)
AF:
AC:
133
AN:
52732
Other (OTH)
AF:
AC:
2
AN:
1410
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.496
Heterozygous variant carriers
0
8
16
25
33
41
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Variant carriers
0
4
8
12
16
20
<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.:
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
You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.