rs1137134

Variant names:

• chr9-12712157-G-A
• rs1137134
• ENST00000417638.1:n.273-11531C>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.273-11531C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.411 in 151,414 control chromosomes in the GnomAD database, including 16,501 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 (16501 hom., cov: 32)
• Consequence: LURAP1L-AS1 ENST00000417638.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.281
• Publications: 7 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=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.595 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.317-11531C>T		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LURAP1L-AS1	ENST00000417638.1	TSL:3	n.273-11531C>T		intron	N/A
	LURAP1L-AS1	ENST00000650458.1		n.193-12802C>T		intron	N/A
	LURAP1L-AS1	ENST00000654076.1		n.159-11531C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.411 AC: 62193 AN: 151296 Hom.: 16502 Cov.: 32

Gnomad AFR AF: 0.125

Gnomad AMI AF: 0.454

Gnomad AMR AF: 0.377

Gnomad ASJ AF: 0.459

Gnomad EAS AF: 0.0198

Gnomad SAS AF: 0.221

Gnomad FIN AF: 0.625

Gnomad MID AF: 0.386

Gnomad NFE AF: 0.600

Gnomad OTH AF: 0.417

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

GnomAD4 genome AF: 0.411 AC: 62191 AN: 151414 Hom.: 16501 Cov.: 32 AF XY: 0.404 AC XY: 29903 AN XY: 73964

African (AFR) AF: 0.125 AC: 5186 AN: 41428

American (AMR) AF: 0.377 AC: 5710 AN: 15156

Ashkenazi Jewish (ASJ) AF: 0.459 AC: 1592 AN: 3466

East Asian (EAS) AF: 0.0197 AC: 101 AN: 5136

South Asian (SAS) AF: 0.221 AC: 1066 AN: 4818

European-Finnish (FIN) AF: 0.625 AC: 6577 AN: 10518

Middle Eastern (MID) AF: 0.384 AC: 113 AN: 294

European-Non Finnish (NFE) AF: 0.600 AC: 40563 AN: 67592

Other (OTH) AF: 0.415 AC: 869 AN: 2094

Alfa AF: 0.536 Hom.: 95124

Bravo AF: 0.383

Asia WGS AF: 0.133 AC: 463 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.1
DANN	Benign	0.60
PhyloP100		-0.28

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: rs1137134;

hg19: chr9-12712157;