rs1559971
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000458437.2(POT1-AS1):n.269-25094T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.3 in 151,926 control chromosomes in the GnomAD database, including 7,034 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 0.30 ( 7034 hom., cov: 32)
Consequence
POT1-AS1
ENST00000458437.2 intron
ENST00000458437.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.836
Genes affected
POT1-AS1 (HGNC:49459): (POT1 antisense RNA 1)
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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=-0.91).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.374 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC101928283 | NR_110188.1 | n.632-7651T>C | intron_variant | Intron 3 of 8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POT1-AS1 | ENST00000424515.2 | n.649-7651T>C | intron_variant | Intron 4 of 9 | 5 | |||||
POT1-AS1 | ENST00000458437.2 | n.269-25094T>C | intron_variant | Intron 3 of 10 | 3 | |||||
POT1-AS1 | ENST00000651909.1 | n.262-25094T>C | intron_variant | Intron 3 of 7 |
Frequencies
GnomAD3 genomes AF: 0.300 AC: 45599AN: 151808Hom.: 7023 Cov.: 32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.300 AC: 45644AN: 151926Hom.: 7034 Cov.: 32 AF XY: 0.302 AC XY: 22455AN XY: 74264
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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