rs10169728

Variant names:

• chr2-65778497-A-C
• rs10169728
• ENST00000606978.5:n.668+23714A>C

Your query was ambiguous. Multiple possible variants found:

• chr2-65778497-A-C
• chr2-65778497-A-T

Variant summary

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

The ENST00000822281.1(LINC02934):​n.333-9629A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.176 in 152,094 control chromosomes in the GnomAD database, including 3,880 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 0.18 (3880 hom., cov: 33)
• Consequence: LINC02934 ENST00000822281.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.121
• Publications: 1 publications found

Genes affected

LINC02934 (HGNC:55913): (long intergenic non-protein coding RNA 2934)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.379 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000822281.1. 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
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC02934	ENST00000606978.5	TSL:5	n.668+23714A>C		intron	N/A
	LINC02934	ENST00000822281.1		n.333-9629A>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.176 AC: 26770 AN: 151976 Hom.: 3871 Cov.: 33

Gnomad AFR AF: 0.384

Gnomad AMI AF: 0.0614

Gnomad AMR AF: 0.174

Gnomad ASJ AF: 0.0810

Gnomad EAS AF: 0.369

Gnomad SAS AF: 0.183

Gnomad FIN AF: 0.0887

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.0563

Gnomad OTH AF: 0.151

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

GnomAD4 genome AF: 0.176 AC: 26827 AN: 152094 Hom.: 3880 Cov.: 33 AF XY: 0.178 AC XY: 13242 AN XY: 74366

African (AFR) AF: 0.384 AC: 15922 AN: 41450

American (AMR) AF: 0.174 AC: 2663 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0810 AC: 281 AN: 3468

East Asian (EAS) AF: 0.368 AC: 1905 AN: 5174

South Asian (SAS) AF: 0.182 AC: 877 AN: 4814

European-Finnish (FIN) AF: 0.0887 AC: 941 AN: 10608

Middle Eastern (MID) AF: 0.122 AC: 36 AN: 294

European-Non Finnish (NFE) AF: 0.0563 AC: 3824 AN: 67974

Other (OTH) AF: 0.153 AC: 322 AN: 2108

Alfa AF: 0.140 Hom.: 1317

Bravo AF: 0.190

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.8
DANN	Benign	0.58
PhyloP100		0.12

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: rs10169728;

hg19: chr2-66005631;