chrX-146609682-T-C
Variant names:
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.79 ( 24126 hom., 25872 hem., cov: 23)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.09
Publications
2 publications found
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.99).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.789 AC: 87049AN: 110361Hom.: 24121 Cov.: 23 show subpopulations
GnomAD3 genomes
AF:
AC:
87049
AN:
110361
Hom.:
Cov.:
23
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 Data not reliable, filtered out with message: InbreedingCoeff AF: 0.789 AC: 87095AN: 110414Hom.: 24126 Cov.: 23 AF XY: 0.792 AC XY: 25872AN XY: 32674 show subpopulations
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
AF:
AC:
87095
AN:
110414
Hom.:
Cov.:
23
AF XY:
AC XY:
25872
AN XY:
32674
show subpopulations
African (AFR)
AF:
AC:
24664
AN:
30361
American (AMR)
AF:
AC:
8717
AN:
10353
Ashkenazi Jewish (ASJ)
AF:
AC:
2166
AN:
2636
East Asian (EAS)
AF:
AC:
2747
AN:
3466
South Asian (SAS)
AF:
AC:
1902
AN:
2579
European-Finnish (FIN)
AF:
AC:
4548
AN:
5843
Middle Eastern (MID)
AF:
AC:
154
AN:
213
European-Non Finnish (NFE)
AF:
AC:
40594
AN:
52793
Other (OTH)
AF:
AC:
1162
AN:
1501
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.502
Heterozygous variant carriers
0
685
1371
2056
2742
3427
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
Bravo
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
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.