Variant 16-86197744-CGTGTGTGTGTGTGTGTGT-CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The ENST00000601250.1(LINC01082):n.232+1351_232+1362dupGTGTGTGTGTGT variant causes a intron 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 0.000014 ( 0 hom., cov: 0)

Consequence

LINC01082
ENST00000601250.1 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.11

Variant links:

Genes affected

ENSG00000268505 (HGNC:):

ENSG00000268505 links:

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	Protein	UniProt
LINC01082	NR_103859.1 linkuse as main transcript	n.232+1351_232+1362dupGTGTGTGTGTGT		intron_variant
LOC124903743	XR_007065164.1 linkuse as main transcript	n.628-577_628-566dupACACACACACAC		intron_variant

Ensembl

Gene	Transcript	HGVSc	Effect	TSL
ENSG00000268505	ENST00000599841.1 linkuse as main transcript	n.25-577_25-566dupACACACACACAC	intron_variant	4
LINC01082	ENST00000601250.1 linkuse as main transcript	n.232+1351_232+1362dupGTGTGTGTGTGT	intron_variant	2
LINC01082	ENST00000669926.2 linkuse as main transcript	n.459+1351_459+1362dupGTGTGTGTGTGT	intron_variant

Frequencies

GnomAD3 genomes

AF:

0.0000135

AC:

AN:

147856

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0000505

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.00

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.00

Gnomad OTH

AF:

0.00

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

AF:

0.0000135

AC:

AN:

147856

Hom.:

Cov.:

AF XY:

0.0000278

AC XY:

AN XY:

71866

show subpopulations

Gnomad4 AFR

AF:

0.0000505

Gnomad4 AMR

AF:

0.00

Gnomad4 ASJ

AF:

0.00

Gnomad4 EAS

AF:

0.00

Gnomad4 SAS

AF:

0.00

Gnomad4 FIN

AF:

0.00

Gnomad4 NFE

AF:

0.00

Gnomad4 OTH

AF:

0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

LitVar

Other links and lift over