rs10088218

Variant names:

• chr8-128531703-G-A
• rs10088218
• ENST00000520766.5:n.57+29367C>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000520766.5(LINC00824):​n.57+29367C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.124 in 152,162 control chromosomes in the GnomAD database, including 1,236 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.12 (1236 hom., cov: 32)
• Consequence: LINC00824 ENST00000520766.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.65
• Publications: 74 publications found

Genes affected

LINC00824 (HGNC:50281): (long intergenic non-protein coding RNA 824)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.139 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LINC00824	NR_121672.1	n.508+29367C>T		intron_variant	Intron 2 of 7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
LINC00824	ENST00000520766.5	n.57+29367C>T		intron_variant	Intron 1 of 5	5
LINC00824	ENST00000756796.1	n.425-14800C>T		intron_variant	Intron 2 of 2
LINC00824	ENST00000756797.1	n.426-14800C>T		intron_variant	Intron 2 of 3

Frequencies

GnomAD3 genomes AF: 0.124 AC: 18801 AN: 152044 Hom.: 1235 Cov.: 32

Gnomad AFR AF: 0.142

Gnomad AMI AF: 0.0921

Gnomad AMR AF: 0.0851

Gnomad ASJ AF: 0.108

Gnomad EAS AF: 0.0177

Gnomad SAS AF: 0.115

Gnomad FIN AF: 0.125

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.131

Gnomad OTH AF: 0.114

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

GnomAD4 genome AF: 0.124 AC: 18815 AN: 152162 Hom.: 1236 Cov.: 32 AF XY: 0.122 AC XY: 9070 AN XY: 74384

African (AFR) AF: 0.142 AC: 5901 AN: 41500

American (AMR) AF: 0.0849 AC: 1297 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.108 AC: 376 AN: 3468

East Asian (EAS) AF: 0.0174 AC: 90 AN: 5180

South Asian (SAS) AF: 0.116 AC: 558 AN: 4822

European-Finnish (FIN) AF: 0.125 AC: 1327 AN: 10582

Middle Eastern (MID) AF: 0.187 AC: 55 AN: 294

European-Non Finnish (NFE) AF: 0.131 AC: 8881 AN: 68010

Other (OTH) AF: 0.117 AC: 246 AN: 2110

Alfa AF: 0.127 Hom.: 6126

Bravo AF: 0.122

Asia WGS AF: 0.0760 AC: 265 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.029
DANN	Benign	0.54
PhyloP100		-2.6

Splicing

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

Other links and lift over

dbSNP: rs10088218; hg19: chr8-129543949;