rs548146

Positions:

• chr11-111165332-A-G

Variant summary

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

The ENST00000636877.1(LINC02550):​n.837+4931T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.378 in 151,898 control chromosomes in the GnomAD database, including 11,244 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 0.38 (11244 hom., cov: 32)
• Consequence: LINC02550 ENST00000636877.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.04

Genes affected

LINC02550 (HGNC:53585): (long intergenic non-protein coding RNA 2550)

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 (AMR) allele frequency at 95% confidence interval = 0.459 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
LINC02550	ENST00000636877.1	n.837+4931T>C		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.378 AC: 57402 AN: 151780 Hom.: 11205 Cov.: 32

Gnomad AFR AF: 0.449

Gnomad AMI AF: 0.269

Gnomad AMR AF: 0.468

Gnomad ASJ AF: 0.283

Gnomad EAS AF: 0.353

Gnomad SAS AF: 0.317

Gnomad FIN AF: 0.270

Gnomad MID AF: 0.376

Gnomad NFE AF: 0.344

Gnomad OTH AF: 0.375

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

GnomAD4 genome AF: 0.378 AC: 57482 AN: 151898 Hom.: 11244 Cov.: 32 AF XY: 0.379 AC XY: 28104 AN XY: 74230

Gnomad4 AFR AF: 0.450

Gnomad4 AMR AF: 0.468

Gnomad4 ASJ AF: 0.283

Gnomad4 EAS AF: 0.353

Gnomad4 SAS AF: 0.316

Gnomad4 FIN AF: 0.270

Gnomad4 NFE AF: 0.344

Gnomad4 OTH AF: 0.370

Alfa AF: 0.354 Hom.: 1226

Bravo AF: 0.399

Asia WGS AF: 0.364 AC: 1264 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	0.11
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs548146; hg19: chr11-111036056;