rs708382
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 variant allele was found at a frequency of 0.00000185 in 541,412 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: 31)
Exomes 𝑓: 0.0000018 ( 0 hom. )
Consequence
RPL7L1P5
intragenic
intragenic
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.226
Publications
36 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=-0.61).
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| RPL7L1P5 | n.44364976T>A | intragenic_variant |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| RPL7L1P5 | ENST00000590816.1 | n.*38A>T | downstream_gene_variant | 6 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
31
GnomAD4 exome AF: 0.00000185 AC: 1AN: 541412Hom.: 0 Cov.: 6 AF XY: 0.00000344 AC XY: 1AN XY: 290378 show subpopulations
GnomAD4 exome
AF:
AC:
1
AN:
541412
Hom.:
Cov.:
6
AF XY:
AC XY:
1
AN XY:
290378
show subpopulations
African (AFR)
AF:
AC:
0
AN:
14694
American (AMR)
AF:
AC:
0
AN:
28164
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
18458
East Asian (EAS)
AF:
AC:
0
AN:
30932
South Asian (SAS)
AF:
AC:
0
AN:
59094
European-Finnish (FIN)
AF:
AC:
0
AN:
31354
Middle Eastern (MID)
AF:
AC:
0
AN:
2304
European-Non Finnish (NFE)
AF:
AC:
1
AN:
327198
Other (OTH)
AF:
AC:
0
AN:
29214
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.475
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome
GnomAD4 genome
Cov.:
31
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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