16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGT
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NR_103859.1(LINC01082):n.232+1359_232+1362del variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.18 ( 2805 hom., cov: 0)
Consequence
LINC01082
NR_103859.1 intron, non_coding_transcript
NR_103859.1 intron, non_coding_transcript
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.19
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
?
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.309 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC01082 | NR_103859.1 | n.232+1359_232+1362del | intron_variant, non_coding_transcript_variant | ||||
LOC124903743 | XR_007065164.1 | n.628-569_628-566del | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000599841.1 | n.25-569_25-566del | intron_variant, non_coding_transcript_variant | 4 | ||||||
LINC01082 | ENST00000669926.2 | n.459+1359_459+1362del | intron_variant, non_coding_transcript_variant | ||||||
LINC01082 | ENST00000601250.1 | n.232+1359_232+1362del | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.185 AC: 27300AN: 147750Hom.: 2805 Cov.: 0
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GnomAD4 genome ? AF: 0.185 AC: 27306AN: 147856Hom.: 2805 Cov.: 0 AF XY: 0.186 AC XY: 13354AN XY: 71930
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ClinVar
Not reported inComputational scores
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at