11-23445820-T-G
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 0.0 ( 0 hom., cov: 12)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.19
Publications
0 publications found
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
Variant Effect in Transcripts
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
There are no transcript annotations for this variant. | |||||||||
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
There are no transcript annotations for this variant. | |||||||||
Frequencies
GnomAD3 genomes 0.00 AC: 0AN: 94990Hom.: 0 Cov.: 12
GnomAD3 genomes
AF:
AC:
0
AN:
94990
Hom.:
Cov.:
12
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 0.00 AC: 0AN: 94990Hom.: 0 Cov.: 12 AF XY: 0.00 AC XY: 0AN XY: 44082
GnomAD4 genome
Data not reliable, filtered out with message: AC0;AS_VQSR
AF:
AC:
0
AN:
94990
Hom.:
Cov.:
12
AF XY:
AC XY:
0
AN XY:
44082
African (AFR)
AF:
AC:
0
AN:
27668
American (AMR)
AF:
AC:
0
AN:
8864
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2424
East Asian (EAS)
AF:
AC:
0
AN:
2562
South Asian (SAS)
AF:
AC:
0
AN:
2058
European-Finnish (FIN)
AF:
AC:
0
AN:
5248
Middle Eastern (MID)
AF:
AC:
0
AN:
228
European-Non Finnish (NFE)
AF:
AC:
0
AN:
44042
Other (OTH)
AF:
AC:
0
AN:
1222
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.
Publications
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