rs7733067
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000521486.1(ENSG00000254158):n.103A>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 35)
Exomes 𝑓: 8.4e-7 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
ENSG00000254158
ENST00000521486.1 non_coding_transcript_exon
ENST00000521486.1 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.09
Publications
3 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Likely_benign. The variant received -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.53).
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| LOC100288803 | n.178998713T>A | intragenic_variant |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000254158 | ENST00000521486.1 | n.103A>T | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
35
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 8.41e-7 AC: 1AN: 1189210Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 601438 show subpopulations
GnomAD4 exome
Data not reliable, filtered out with message: AS_VQSR
AF:
AC:
1
AN:
1189210
Hom.:
Cov.:
20
AF XY:
AC XY:
0
AN XY:
601438
show subpopulations
African (AFR)
AF:
AC:
0
AN:
25614
American (AMR)
AF:
AC:
0
AN:
40898
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
23606
East Asian (EAS)
AF:
AC:
1
AN:
36610
South Asian (SAS)
AF:
AC:
0
AN:
77644
European-Finnish (FIN)
AF:
AC:
0
AN:
50156
Middle Eastern (MID)
AF:
AC:
0
AN:
4924
European-Non Finnish (NFE)
AF:
AC:
0
AN:
879530
Other (OTH)
AF:
AC:
0
AN:
50228
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.425
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Exome Het
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
GnomAD4 genome
GnomAD4 genome
Cov.:
35
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
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