chr7-142307367-AGTGTGTGTGTGTGTGTGT-A
Variant names:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000068 ( 0 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: Uncertain_significance. The variant received 0 ACMG points.
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 0.00000684 AC: 1AN: 146224Hom.: 0 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
1
AN:
146224
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 0.00000683 AC: 1AN: 146330Hom.: 0 Cov.: 0 AF XY: 0.0000141 AC XY: 1AN XY: 71054 show subpopulations
GnomAD4 genome
AF:
AC:
1
AN:
146330
Hom.:
Cov.:
0
AF XY:
AC XY:
1
AN XY:
71054
show subpopulations
African (AFR)
AF:
AC:
0
AN:
39688
American (AMR)
AF:
AC:
1
AN:
14694
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3424
East Asian (EAS)
AF:
AC:
0
AN:
4900
South Asian (SAS)
AF:
AC:
0
AN:
4486
European-Finnish (FIN)
AF:
AC:
0
AN:
9562
Middle Eastern (MID)
AF:
AC:
0
AN:
288
European-Non Finnish (NFE)
AF:
AC:
0
AN:
66378
Other (OTH)
AF:
AC:
0
AN:
2008
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.525
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
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
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