rs1384883

Positions:

• chr1-74035793-C-T

Variant summary

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

The NM_001105659.2(LRRIQ3):​c.1718+5420G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.473 in 151,766 control chromosomes in the GnomAD database, including 18,478 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 0.47 (18478 hom., cov: 31)
• Consequence: LRRIQ3 NM_001105659.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.383

Genes affected

LRRIQ3 (HGNC:28318): (leucine rich repeats and IQ motif containing 3)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.798 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LRRIQ3	NM_001105659.2	c.1718+5420G>A		intron_variant		ENST00000354431.9	NP_001099129.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
LRRIQ3	ENST00000354431.9	c.1718+5420G>A		intron_variant		5	NM_001105659.2	ENSP00000346414	P2
LRRIQ3	ENST00000395089.5	c.1718+5420G>A		intron_variant		5		ENSP00000378524	P2
LRRIQ3	ENST00000417067.5	c.131-8824G>A		intron_variant		2		ENSP00000390376
LRRIQ3	ENST00000415760.5	c.*2703+5898G>A		intron_variant, NMD_transcript_variant		2		ENSP00000415319

Frequencies

GnomAD3 genomes AF: 0.473 AC: 71733 AN: 151648 Hom.: 18477 Cov.: 31

Gnomad AFR AF: 0.271

Gnomad AMI AF: 0.652

Gnomad AMR AF: 0.489

Gnomad ASJ AF: 0.638

Gnomad EAS AF: 0.819

Gnomad SAS AF: 0.664

Gnomad FIN AF: 0.542

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.531

Gnomad OTH AF: 0.461

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

GnomAD4 genome AF: 0.473 AC: 71744 AN: 151766 Hom.: 18478 Cov.: 31 AF XY: 0.478 AC XY: 35471 AN XY: 74160

Gnomad4 AFR AF: 0.271

Gnomad4 AMR AF: 0.490

Gnomad4 ASJ AF: 0.638

Gnomad4 EAS AF: 0.819

Gnomad4 SAS AF: 0.662

Gnomad4 FIN AF: 0.542

Gnomad4 NFE AF: 0.531

Gnomad4 OTH AF: 0.465

Alfa AF: 0.525 Hom.: 27806

Bravo AF: 0.460

Asia WGS AF: 0.679 AC: 2360 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.9
DANN	Benign	0.57

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs1384883; hg19: chr1-74501477;