Genetic Variant ENSG00000268505:n.25-569_25-566delACAC (chr16-86197744-CGTGT-C) – ACMG Classification: Benign (-8 pts)

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

The ENST00000599841.1(ENSG00000268505):n.25-569_25-566delACAC 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 0.18 ( 2805 hom., cov: 0)

Consequence

ENSG00000268505
ENST00000599841.1 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.19

Publications

1 publications found

Variant links:

Genes affected

ENSG00000268505 (HGNC:):

ENSG00000268505 links:

LINC01082 (HGNC:49125): (long intergenic non-protein coding RNA 1082)

LINC01082 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt
LINC01082	NR_103859.1 link	n.232+1359_232+1362delGTGT		intron_variant	Intron 1 of 1
LOC124903743	XR_007065164.1 link	n.628-569_628-566delACAC		intron_variant	Intron 1 of 1

Ensembl

Gene	Transcript	HGVSc	Effect	Exon rank	TSL
ENSG00000268505	ENST00000599841.1 link	n.25-569_25-566delACAC	intron_variant	Intron 1 of 2	4
LINC01082	ENST00000601250.1 link	n.232+1333_232+1336delGTGT	intron_variant	Intron 1 of 1	2
LINC01082	ENST00000669926.3 link	n.508+1333_508+1336delGTGT	intron_variant	Intron 1 of 1

Frequencies

GnomAD3 genomes

AF:

0.185

AC:

27300

AN:

147750

Hom.:

2805

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0994

Gnomad AMI

AF:

0.222

Gnomad AMR

AF:

0.316

Gnomad ASJ

AF:

0.174

Gnomad EAS

AF:

0.228

Gnomad SAS

AF:

0.167

Gnomad FIN

AF:

0.188

Gnomad MID

AF:

0.102

Gnomad NFE

AF:

0.204

Gnomad OTH

AF:

0.181

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

GnomAD4 genome

AF:

0.185

AC:

27306

AN:

147856

Hom.:

2805

Cov.:

AF XY:

0.186

AC XY:

13354

AN XY:

71930

show subpopulations

African (AFR)

AF:

0.0996

AC:

3958

AN:

39726

American (AMR)

AF:

0.316

AC:

4728

AN:

14952

Ashkenazi Jewish (ASJ)

AF:

0.174

AC:

597

AN:

3428

East Asian (EAS)

AF:

0.227

AC:

1131

AN:

4972

South Asian (SAS)

AF:

0.167

AC:

758

AN:

4552

European-Finnish (FIN)

AF:

0.188

AC:

1866

AN:

9930

Middle Eastern (MID)

AF:

0.103

AC:

AN:

292

European-Non Finnish (NFE)

AF:

0.204

AC:

13680

AN:

67074

Other (OTH)

AF:

0.177

AC:

359

AN:

2032

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.521

Heterozygous variant carriers

1025

2050

3075

4100

5125

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

302

604

906

1208

1510

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.0986

Hom.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

PhyloP100

1.2

Mutation Taster

=100/0

polymorphism (auto)

(source)

Splicing

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

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over