rs12469535
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_130701.1(LINC01881):n.310+6969G>A 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 0.232 in 151,934 control chromosomes in the GnomAD database, including 5,393 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 0.23 ( 5393 hom., cov: 32)
Consequence
LINC01881
NR_130701.1 intron, non_coding_transcript
NR_130701.1 intron, non_coding_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.583
Genes affected
LINC01881 (HGNC:52700): (long intergenic non-protein coding RNA 1881)
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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=-1.03).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.404 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LINC01881 | NR_130701.1 | n.310+6969G>A | intron_variant, non_coding_transcript_variant | |||||
LINC01881 | NR_130699.1 | n.310+6969G>A | intron_variant, non_coding_transcript_variant | |||||
LINC01881 | NR_130700.1 | n.310+6969G>A | intron_variant, non_coding_transcript_variant | |||||
LINC01881 | NR_130702.1 | n.310+6969G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC01881 | ENST00000416103.2 | n.134+6969G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000692555.1 | n.301+6969G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.232 AC: 35238AN: 151816Hom.: 5366 Cov.: 32
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.232 AC: 35309AN: 151934Hom.: 5393 Cov.: 32 AF XY: 0.239 AC XY: 17781AN XY: 74258
GnomAD4 genome
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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