rs3025058
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The variant allele was found at a frequency of 0.0000438 in 22,848 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000044 ( 0 hom., cov: 33)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.343
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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Frequencies
GnomAD3 genomes AF: 0.0000438 AC: 1AN: 22848Hom.: 0 Cov.: 33 show subpopulations
GnomAD3 genomes
AF:
AC:
1
AN:
22848
Hom.:
Cov.:
33
Gnomad AFR
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0000438 AC: 1AN: 22848Hom.: 0 Cov.: 33 AF XY: 0.0000927 AC XY: 1AN XY: 10786 show subpopulations
GnomAD4 genome
AF:
AC:
1
AN:
22848
Hom.:
Cov.:
33
AF XY:
AC XY:
1
AN XY:
10786
Gnomad4 AFR
AF:
AC:
0
AN:
0
Gnomad4 AMR
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AC:
0
AN:
0
Gnomad4 ASJ
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AC:
0
AN:
0
Gnomad4 EAS
AF:
AC:
0.0111111
AN:
0.0111111
Gnomad4 SAS
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AC:
0
AN:
0
Gnomad4 FIN
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AC:
0
AN:
0
Gnomad4 NFE
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AC:
0
AN:
0
Gnomad4 OTH
AF:
AC:
0
AN:
0
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
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0.95
Allele balance
Genome Het
Variant carriers
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10
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Age
Alfa
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Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at