chr10-70170920-CTTT-C
Variant names:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0020 ( 1 hom., cov: 0)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.46
Publications
1 publications found
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ACMG classification
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 |
|---|
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.00200 AC: 146AN: 72982Hom.: 1 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
146
AN:
72982
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 0.00201 AC: 147AN: 72994Hom.: 1 Cov.: 0 AF XY: 0.00184 AC XY: 59AN XY: 32138 show subpopulations
GnomAD4 genome
Data not reliable, filtered out with message: AS_VQSR
AF:
AC:
147
AN:
72994
Hom.:
Cov.:
0
AF XY:
AC XY:
59
AN XY:
32138
show subpopulations
African (AFR)
AF:
AC:
19
AN:
16532
American (AMR)
AF:
AC:
16
AN:
5492
Ashkenazi Jewish (ASJ)
AF:
AC:
2
AN:
2338
East Asian (EAS)
AF:
AC:
19
AN:
2062
South Asian (SAS)
AF:
AC:
4
AN:
1650
European-Finnish (FIN)
AF:
AC:
0
AN:
924
Middle Eastern (MID)
AF:
AC:
0
AN:
74
European-Non Finnish (NFE)
AF:
AC:
84
AN:
42416
Other (OTH)
AF:
AC:
1
AN:
924
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.427
Heterozygous variant carriers
0
5
10
15
20
25
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
2
4
6
8
10
<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
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