16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGT
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1BS2
The NR_103859.1(LINC01082):n.232+1357_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 0.0094 ( 23 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 Benign. Variant got -8 ACMG points.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00941 (1392/147888) while in subpopulation AFR AF= 0.0328 (1303/39736). AF 95% confidence interval is 0.0313. There are 23 homozygotes in gnomad4. There are 706 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 23 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC01082 | NR_103859.1 | n.232+1357_232+1362del | intron_variant, non_coding_transcript_variant | ||||
LOC124903743 | XR_007065164.1 | n.628-571_628-566del | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000599841.1 | n.25-571_25-566del | intron_variant, non_coding_transcript_variant | 4 | ||||||
LINC01082 | ENST00000669926.2 | n.459+1357_459+1362del | intron_variant, non_coding_transcript_variant | ||||||
LINC01082 | ENST00000601250.1 | n.232+1357_232+1362del | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00938 AC: 1386AN: 147784Hom.: 23 Cov.: 0
GnomAD3 genomes
?
AF:
AC:
1386
AN:
147784
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.00941 AC: 1392AN: 147888Hom.: 23 Cov.: 0 AF XY: 0.00981 AC XY: 706AN XY: 71940
GnomAD4 genome
?
AF:
AC:
1392
AN:
147888
Hom.:
Cov.:
0
AF XY:
AC XY:
706
AN XY:
71940
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at