10-70170920-C-CTTTTTT
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 0.0039 ( 22 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.120
Publications
1 publications found
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
BS2
High Homozygotes in GnomAd4 at 22 gene
Variant Effect in Transcripts
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.00386 AC: 282AN: 73076Hom.: 22 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
282
AN:
73076
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 0.00386 AC: 282AN: 73088Hom.: 22 Cov.: 0 AF XY: 0.00395 AC XY: 127AN XY: 32176 show subpopulations
GnomAD4 genome
AF:
AC:
282
AN:
73088
Hom.:
Cov.:
0
AF XY:
AC XY:
127
AN XY:
32176
show subpopulations
African (AFR)
AF:
AC:
191
AN:
16548
American (AMR)
AF:
AC:
7
AN:
5504
Ashkenazi Jewish (ASJ)
AF:
AC:
5
AN:
2340
East Asian (EAS)
AF:
AC:
1
AN:
2056
South Asian (SAS)
AF:
AC:
3
AN:
1652
European-Finnish (FIN)
AF:
AC:
0
AN:
928
Middle Eastern (MID)
AF:
AC:
0
AN:
74
European-Non Finnish (NFE)
AF:
AC:
71
AN:
42480
Other (OTH)
AF:
AC:
3
AN:
924
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.590
Heterozygous variant carriers
0
8
16
24
32
40
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
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
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.