chr4-95920580-T-A
Variant names:
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The ENST00000739571.1(ENSG00000296420):n.95+5723T>A variant causes a intron change. 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: 17)
Failed GnomAD Quality Control
Consequence
ENSG00000296420
ENST00000739571.1 intron
ENST00000739571.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
No conservation score assigned
Publications
0 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Likely_benign. The variant received -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.96).
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 |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000296420 | ENST00000739571.1 | n.95+5723T>A | intron_variant | Intron 1 of 2 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 130088Hom.: 0 Cov.: 17
GnomAD3 genomes
AF:
AC:
0
AN:
130088
Hom.:
Cov.:
17
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: AC0;AS_VQSR AF: 0.00 AC: 0AN: 130088Hom.: 0 Cov.: 17 AF XY: 0.00 AC XY: 0AN XY: 61762
GnomAD4 genome
Data not reliable, filtered out with message: AC0;AS_VQSR
AF:
AC:
0
AN:
130088
Hom.:
Cov.:
17
AF XY:
AC XY:
0
AN XY:
61762
African (AFR)
AF:
AC:
0
AN:
34452
American (AMR)
AF:
AC:
0
AN:
11984
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3234
East Asian (EAS)
AF:
AC:
0
AN:
4348
South Asian (SAS)
AF:
AC:
0
AN:
3808
European-Finnish (FIN)
AF:
AC:
0
AN:
7120
Middle Eastern (MID)
AF:
AC:
0
AN:
288
European-Non Finnish (NFE)
AF:
AC:
0
AN:
62328
Other (OTH)
AF:
AC:
0
AN:
1686
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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