rs970946

Variant names:

• chr9-12738691-C-A
• rs970946
• ENST00000417638.1:n.272+20861G>T

Your query was ambiguous. Multiple possible variants found:

• chr9-12738691-C-A
• chr9-12738691-C-G
• chr9-12738691-C-T

Variant summary

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

The ENST00000417638.1(LURAP1L-AS1):​n.272+20861G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.409 in 151,928 control chromosomes in the GnomAD database, including 14,224 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 0.41 (14224 hom., cov: 33)
• Consequence: LURAP1L-AS1 ENST00000417638.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.262
• Publications: 3 publications found

Genes affected

LURAP1L-AS1 (HGNC:49761): (LURAP1L antisense RNA 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.798 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000417638.1. 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
	LURAP1L-AS1	NR_125775.1		n.316+20861G>T		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LURAP1L-AS1	ENST00000417638.1	TSL:3	n.272+20861G>T		intron	N/A
	LURAP1L-AS1	ENST00000650458.1		n.192+20861G>T		intron	N/A
	LURAP1L-AS1	ENST00000654076.1		n.158+20861G>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.409 AC: 62128 AN: 151808 Hom.: 14208 Cov.: 33

Gnomad AFR AF: 0.533

Gnomad AMI AF: 0.193

Gnomad AMR AF: 0.491

Gnomad ASJ AF: 0.402

Gnomad EAS AF: 0.818

Gnomad SAS AF: 0.529

Gnomad FIN AF: 0.273

Gnomad MID AF: 0.418

Gnomad NFE AF: 0.300

Gnomad OTH AF: 0.417

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

GnomAD4 genome AF: 0.409 AC: 62190 AN: 151928 Hom.: 14224 Cov.: 33 AF XY: 0.415 AC XY: 30810 AN XY: 74260

African (AFR) AF: 0.533 AC: 22095 AN: 41444

American (AMR) AF: 0.491 AC: 7482 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.402 AC: 1393 AN: 3468

East Asian (EAS) AF: 0.818 AC: 4202 AN: 5134

South Asian (SAS) AF: 0.528 AC: 2542 AN: 4814

European-Finnish (FIN) AF: 0.273 AC: 2880 AN: 10566

Middle Eastern (MID) AF: 0.412 AC: 121 AN: 294

European-Non Finnish (NFE) AF: 0.300 AC: 20408 AN: 67944

Other (OTH) AF: 0.421 AC: 891 AN: 2114

Alfa AF: 0.350 Hom.: 31074

Bravo AF: 0.431

Asia WGS AF: 0.647 AC: 2247 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.6
DANN	Benign	0.22
PhyloP100		0.26

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: rs970946;

hg19: chr9-12738690;