16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGTGTGTGTGT
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NR_103859.1(LINC01082):n.232+1359_232+1362dup 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 0.0047 ( 4 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: -1.11
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
?
High Homozygotes in GnomAd at 4 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC01082 | NR_103859.1 | n.232+1359_232+1362dup | intron_variant, non_coding_transcript_variant | ||||
LOC124903743 | XR_007065164.1 | n.628-566_628-565insACAC | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000599841.1 | n.25-566_25-565insACAC | intron_variant, non_coding_transcript_variant | 4 | ||||||
LINC01082 | ENST00000669926.2 | n.459+1359_459+1362dup | intron_variant, non_coding_transcript_variant | ||||||
LINC01082 | ENST00000601250.1 | n.232+1359_232+1362dup | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00469 AC: 693AN: 147852Hom.: 4 Cov.: 0
GnomAD3 genomes
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0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.00468 AC: 693AN: 147958Hom.: 4 Cov.: 0 AF XY: 0.00472 AC XY: 340AN XY: 71980
GnomAD4 genome
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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