rs58016760
Positions:
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-C
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGTGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGTGTGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGTGTGTGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- chr16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NR_103859.1(LINC01082):n.232+1345_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 0.000027 ( 0 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
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC01082 | NR_103859.1 | n.232+1345_232+1362del | intron_variant, non_coding_transcript_variant | ||||
LOC124903743 | XR_007065164.1 | n.628-583_628-566del | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000599841.1 | n.25-583_25-566del | intron_variant, non_coding_transcript_variant | 4 | ||||||
LINC01082 | ENST00000669926.2 | n.459+1345_459+1362del | intron_variant, non_coding_transcript_variant | ||||||
LINC01082 | ENST00000601250.1 | n.232+1345_232+1362del | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000271 AC: 4AN: 147856Hom.: 0 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0000271 AC: 4AN: 147856Hom.: 0 Cov.: 0 AF XY: 0.0000139 AC XY: 1AN XY: 71866
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at