rs1766167
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_135038.1(LINC02609):n.156+15233T>C 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 0.281 in 152,138 control chromosomes in the GnomAD database, including 6,205 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 0.28 ( 6202 hom., cov: 33)
Exomes 𝑓: 0.42 ( 3 hom. )
Consequence
LINC02609
NR_135038.1 intron, non_coding_transcript
NR_135038.1 intron, non_coding_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.295
Genes affected
LINC02788 (HGNC:54309): (long intergenic non-protein coding RNA 2788)
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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=-0.86).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.353 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC02609 | NR_135038.1 | n.156+15233T>C | intron_variant, non_coding_transcript_variant | ||||
LINC02609 | NR_147930.1 | n.169-4054T>C | intron_variant, non_coding_transcript_variant | ||||
LINC02609 | NR_147931.1 | n.384+1300T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02788 | ENST00000662449.1 | n.260+331A>G | intron_variant, non_coding_transcript_variant | ||||||
LINC02609 | ENST00000671059.1 | n.46+15233T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.281 AC: 42690AN: 151998Hom.: 6205 Cov.: 33
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33
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GnomAD4 exome AF: 0.417 AC: 10AN: 24Hom.: 3 AF XY: 0.450 AC XY: 9AN XY: 20
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GnomAD4 genome ? AF: 0.281 AC: 42700AN: 152114Hom.: 6202 Cov.: 33 AF XY: 0.280 AC XY: 20787AN XY: 74352
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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