rs10490098

Variant names:

• chr2-58902806-G-A
• rs10490098
• ENST00000422723.6:n.503-21739G>A

Variant summary

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

The ENST00000427421.5(LINC01122):​n.425-9913G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.131 in 152,172 control chromosomes in the GnomAD database, including 1,696 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 0.13 (1696 hom., cov: 32)
• Consequence: LINC01122 ENST00000427421.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0430
• Publications: 4 publications found

Genes affected

LINC01122 (HGNC:49267): (long intergenic non-protein coding RNA 1122)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.447 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000427421.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC01122	NR_033873.1		n.425-9913G>A		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC01122	ENST00000422723.6	TSL:3	n.503-21739G>A		intron	N/A
	LINC01122	ENST00000422793.4	TSL:5	n.374-21739G>A		intron	N/A
	LINC01122	ENST00000427421.5	TSL:2	n.425-9913G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.131 AC: 19928 AN: 152054 Hom.: 1700 Cov.: 32

Gnomad AFR AF: 0.105

Gnomad AMI AF: 0.145

Gnomad AMR AF: 0.198

Gnomad ASJ AF: 0.106

Gnomad EAS AF: 0.462

Gnomad SAS AF: 0.169

Gnomad FIN AF: 0.144

Gnomad MID AF: 0.108

Gnomad NFE AF: 0.104

Gnomad OTH AF: 0.124

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

GnomAD4 genome AF: 0.131 AC: 19915 AN: 152172 Hom.: 1696 Cov.: 32 AF XY: 0.138 AC XY: 10285 AN XY: 74384

African (AFR) AF: 0.104 AC: 4340 AN: 41532

American (AMR) AF: 0.198 AC: 3019 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.106 AC: 367 AN: 3466

East Asian (EAS) AF: 0.462 AC: 2386 AN: 5160

South Asian (SAS) AF: 0.168 AC: 811 AN: 4820

European-Finnish (FIN) AF: 0.144 AC: 1524 AN: 10588

Middle Eastern (MID) AF: 0.105 AC: 31 AN: 294

European-Non Finnish (NFE) AF: 0.104 AC: 7046 AN: 68008

Other (OTH) AF: 0.122 AC: 259 AN: 2116

Alfa AF: 0.112 Hom.: 1393

Bravo AF: 0.133

Asia WGS AF: 0.260 AC: 901 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.4
DANN	Benign	0.41
PhyloP100		0.043

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs10490098;

hg19: chr2-59129941;