rs10496684
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_033885.3(POTEKP):n.594-118C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.409 in 928,214 control chromosomes in the GnomAD database, including 80,253 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 0.40 ( 12549 hom., cov: 34)
Exomes 𝑓: 0.41 ( 67704 hom. )
Consequence
POTEKP
NR_033885.3 intron, non_coding_transcript
NR_033885.3 intron, non_coding_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.736
Genes affected
POTEKP (HGNC:30182): (POTE ankyrin domain family member K, pseudogene) Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in postsynaptic actin cytoskeleton organization. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
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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=-0.97).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.437 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POTEKP | NR_033885.3 | n.594-118C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POTEKP | ENST00000397487.4 | n.884-118C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.404 AC: 61325AN: 151946Hom.: 12541 Cov.: 34
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GnomAD4 exome AF: 0.410 AC: 318527AN: 776150Hom.: 67704 AF XY: 0.412 AC XY: 162500AN XY: 394090
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GnomAD4 genome AF: 0.404 AC: 61370AN: 152064Hom.: 12549 Cov.: 34 AF XY: 0.404 AC XY: 30010AN XY: 74318
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at