rs11634585
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000499624.3(GABPB1-AS1):n.8232G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.649 in 151,906 control chromosomes in the GnomAD database, including 32,314 homozygotes. 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 0.65 ( 32314 hom., cov: 31)
Failed GnomAD Quality Control
Consequence
GABPB1-AS1
ENST00000499624.3 non_coding_transcript_exon
ENST00000499624.3 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.32
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.733 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABPB1-AS1 | ENST00000499624.3 | n.8232G>A | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
GABPB1-AS1 | ENST00000558593.1 | n.449-3129G>A | intron_variant, non_coding_transcript_variant | 5 | |||||
GABPB1-AS1 | ENST00000648591.1 | n.449-6078G>A | intron_variant, non_coding_transcript_variant | ||||||
GABPB1-AS1 | ENST00000668321.1 | n.87-6080G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.649 AC: 98555AN: 151786Hom.: 32277 Cov.: 31
GnomAD3 genomes
?
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151786
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31
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GnomAD4 exome Data not reliable, filtered out with message: AC0AC: 0AN: 0Hom.: 0 Cov.: 0AC XY: 0AN XY: 0
GnomAD4 exome
Data not reliable, filtered out with message: AC0
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GnomAD4 genome ? AF: 0.649 AC: 98656AN: 151906Hom.: 32314 Cov.: 31 AF XY: 0.645 AC XY: 47900AN XY: 74260
GnomAD4 genome
?
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98656
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31
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47900
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74260
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2249
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at