1-189502601-TAAAAAAAAAAA-TAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The XR_002958413.2(LOC105371657):n.483-65711_483-65709dupAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000464 in 107,840 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000046 ( 0 hom., cov: 31)
Consequence
LOC105371657
XR_002958413.2 intron
XR_002958413.2 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.02
Publications
0 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
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 |
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Frequencies
GnomAD3 genomes 0.0000464 AC: 5AN: 107840Hom.: 0 Cov.: 31 show subpopulations
GnomAD3 genomes
AF:
AC:
5
AN:
107840
Hom.:
Cov.:
31
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 0.0000464 AC: 5AN: 107840Hom.: 0 Cov.: 31 AF XY: 0.0000580 AC XY: 3AN XY: 51734 show subpopulations ⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
GnomAD4 genome
AF:
AC:
5
AN:
107840
Hom.:
Cov.:
31
AF XY:
AC XY:
3
AN XY:
51734
show subpopulations
⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
African (AFR)
AF:
AC:
3
AN:
26304
American (AMR)
AF:
AC:
1
AN:
10732
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2688
East Asian (EAS)
AF:
AC:
0
AN:
3910
South Asian (SAS)
AF:
AC:
0
AN:
3388
European-Finnish (FIN)
AF:
AC:
0
AN:
6104
Middle Eastern (MID)
AF:
AC:
0
AN:
198
European-Non Finnish (NFE)
AF:
AC:
1
AN:
52260
Other (OTH)
AF:
AC:
0
AN:
1490
⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0.0000199620), which strongly suggests a high chance of mosaicism in these individuals.
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.365
Heterozygous variant carriers
0
1
1
2
2
3
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0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Variant carriers
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>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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