rs10491744

Positions:

• chr9-12720107-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000417638.1(LURAP1L-AS1):​n.273-19481T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.431 in 151,876 control chromosomes in the GnomAD database, including 18,090 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 0.43 (18090 hom., cov: 33)
• Consequence: LURAP1L-AS1 ENST00000417638.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.922

Genes affected

LURAP1L-AS1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.621 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LURAP1L-AS1	NR_125775.1	n.317-19481T>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
LURAP1L-AS1	ENST00000417638.1	n.273-19481T>C		intron_variant		3
LURAP1L-AS1	ENST00000650458.1	n.193-20752T>C		intron_variant
LURAP1L-AS1	ENST00000654076.1	n.159-19481T>C		intron_variant

Frequencies

GnomAD3 genomes AF: 0.431 AC: 65464 AN: 151758 Hom.: 18087 Cov.: 33

Gnomad AFR AF: 0.136

Gnomad AMI AF: 0.514

Gnomad AMR AF: 0.403

Gnomad ASJ AF: 0.481

Gnomad EAS AF: 0.0201

Gnomad SAS AF: 0.227

Gnomad FIN AF: 0.640

Gnomad MID AF: 0.427

Gnomad NFE AF: 0.626

Gnomad OTH AF: 0.445

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

GnomAD4 genome AF: 0.431 AC: 65474 AN: 151876 Hom.: 18090 Cov.: 33 AF XY: 0.423 AC XY: 31431 AN XY: 74248

Gnomad4 AFR AF: 0.136

Gnomad4 AMR AF: 0.403

Gnomad4 ASJ AF: 0.481

Gnomad4 EAS AF: 0.0199

Gnomad4 SAS AF: 0.227

Gnomad4 FIN AF: 0.640

Gnomad4 NFE AF: 0.626

Gnomad4 OTH AF: 0.442

Alfa AF: 0.546 Hom.: 4253

Bravo AF: 0.403

Asia WGS AF: 0.137 AC: 480 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.73
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10491744; hg19: chr9-12720106;