7-142307367-AGTGTGTGTGTGTGTGTGT-AGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Variant names:
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS2
No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0026 ( 3 hom., cov: 0)
Consequence
TRB
intragenic
intragenic
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.60
Publications
1 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Likely_benign. The variant received -4 ACMG points.
BS2
High Homozygotes in GnomAd4 at 3 gene
Variant Effect in Transcripts
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
There are no transcript annotations for this variant. | |||||||||
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
There are no transcript annotations for this variant. | |||||||||
Frequencies
GnomAD3 genomes 0.00264 AC: 386AN: 146220Hom.: 3 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
386
AN:
146220
Hom.:
Cov.:
0
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 0.00263 AC: 385AN: 146326Hom.: 3 Cov.: 0 AF XY: 0.00293 AC XY: 208AN XY: 71052 show subpopulations
GnomAD4 genome
AF:
AC:
385
AN:
146326
Hom.:
Cov.:
0
AF XY:
AC XY:
208
AN XY:
71052
show subpopulations
African (AFR)
AF:
AC:
227
AN:
39688
American (AMR)
AF:
AC:
25
AN:
14692
Ashkenazi Jewish (ASJ)
AF:
AC:
43
AN:
3424
East Asian (EAS)
AF:
AC:
2
AN:
4900
South Asian (SAS)
AF:
AC:
24
AN:
4486
European-Finnish (FIN)
AF:
AC:
2
AN:
9562
Middle Eastern (MID)
AF:
AC:
1
AN:
288
European-Non Finnish (NFE)
AF:
AC:
56
AN:
66376
Other (OTH)
AF:
AC:
5
AN:
2008
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.499
Heterozygous variant carriers
0
15
31
46
62
77
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
10
20
30
40
50
<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
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.