rs32732

Variant names:

• chr5-3456649-G-A
• rs32732
• ENST00000505443.1:n.460-34027C>T

Variant summary

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

The ENST00000505443.1(LINC01019):​n.460-34027C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.827 in 152,166 control chromosomes in the GnomAD database, including 52,463 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 0.83 (52463 hom., cov: 32)
• Consequence: LINC01019 ENST00000505443.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.26
• Publications: 4 publications found

Genes affected

LINC01019 (HGNC:27742): (long intergenic non-protein coding RNA 1019)

LINC02162 (HGNC:53023): (long intergenic non-protein coding RNA 2162)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.869 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000505443.1. 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
	LINC01019	NR_033898.1		n.460-34027C>T		intron	N/A
	LINC02162	NR_147000.1		n.230+2862G>A		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC01019	ENST00000505443.1	TSL:1	n.460-34027C>T		intron	N/A
	LINC02162	ENST00000512521.2	TSL:4	n.230+2862G>A		intron	N/A
	LINC01019	ENST00000662836.1		n.44-34027C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.827 AC: 125805 AN: 152048 Hom.: 52435 Cov.: 32

Gnomad AFR AF: 0.716

Gnomad AMI AF: 0.931

Gnomad AMR AF: 0.849

Gnomad ASJ AF: 0.882

Gnomad EAS AF: 0.852

Gnomad SAS AF: 0.839

Gnomad FIN AF: 0.878

Gnomad MID AF: 0.956

Gnomad NFE AF: 0.874

Gnomad OTH AF: 0.855

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

GnomAD4 genome AF: 0.827 AC: 125890 AN: 152166 Hom.: 52463 Cov.: 32 AF XY: 0.829 AC XY: 61652 AN XY: 74392

African (AFR) AF: 0.716 AC: 29700 AN: 41502

American (AMR) AF: 0.849 AC: 12988 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.882 AC: 3059 AN: 3470

East Asian (EAS) AF: 0.852 AC: 4385 AN: 5148

South Asian (SAS) AF: 0.840 AC: 4053 AN: 4824

European-Finnish (FIN) AF: 0.878 AC: 9299 AN: 10594

Middle Eastern (MID) AF: 0.956 AC: 281 AN: 294

European-Non Finnish (NFE) AF: 0.875 AC: 59473 AN: 68008

Other (OTH) AF: 0.854 AC: 1803 AN: 2112

Alfa AF: 0.849 Hom.: 9337

Bravo AF: 0.824

Asia WGS AF: 0.824 AC: 2866 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.43
DANN	Benign	0.27
PhyloP100		-2.3

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: rs32732;

hg19: chr5-3456763;