21-44991770-T-C

Variant names:

• chr21-44991770-T-C
• rs13049130
• ENST00000434081.1:n.249A>G

Variant summary

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

The ENST00000434081.1(LINC00163):​n.249A>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.391 in 152,182 control chromosomes in the GnomAD database, including 14,035 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 0.39 (14033 hom., cov: 34)
  • Exomes 𝑓: 1.0 (2 hom.)
• Consequence: LINC00163 ENST00000434081.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.39
• Publications: 3 publications found

Genes affected

LINC00163 (HGNC:33165): (long intergenic non-protein coding RNA 163)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.632 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000434081.1. 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
	LINC00163	NR_033840.1		n.249A>G		non_coding_transcript_exon	Exon 2 of 2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC00163	ENST00000434081.1	TSL:1	n.249A>G		non_coding_transcript_exon	Exon 2 of 2
	LINC00163	ENST00000439088.1	TSL:1	n.229A>G		non_coding_transcript_exon	Exon 2 of 2

Frequencies

GnomAD3 genomes AF: 0.391 AC: 59493 AN: 152060 Hom.: 14032 Cov.: 34

Gnomad AFR AF: 0.120

Gnomad AMI AF: 0.470

Gnomad AMR AF: 0.443

Gnomad ASJ AF: 0.406

Gnomad EAS AF: 0.632

Gnomad SAS AF: 0.650

Gnomad FIN AF: 0.538

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.482

Gnomad OTH AF: 0.420

GnomAD4 exome AF: 1.00 AC: 4 AN: 4 Hom.: 2 Cov.: 0 AF XY: 1.00 AC XY: 2 AN XY: 2

African (AFR) AC: 0 AN: 0

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AC: 0 AN: 0

South Asian (SAS) AC: 0 AN: 0

European-Finnish (FIN) AC: 0 AN: 0

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AF: 1.00 AC: 4 AN: 4

Other (OTH) AC: 0 AN: 0

GnomAD4 genome AF: 0.391 AC: 59499 AN: 152178 Hom.: 14033 Cov.: 34 AF XY: 0.400 AC XY: 29774 AN XY: 74384

African (AFR) AF: 0.120 AC: 4982 AN: 41542

American (AMR) AF: 0.443 AC: 6780 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.406 AC: 1409 AN: 3470

East Asian (EAS) AF: 0.631 AC: 3258 AN: 5164

South Asian (SAS) AF: 0.651 AC: 3138 AN: 4822

European-Finnish (FIN) AF: 0.538 AC: 5688 AN: 10582

Middle Eastern (MID) AF: 0.411 AC: 120 AN: 292

European-Non Finnish (NFE) AF: 0.482 AC: 32804 AN: 67990

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

Alfa AF: 0.432 Hom.: 1975

Bravo AF: 0.367

Asia WGS AF: 0.592 AC: 2056 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.2
DANN	Benign	0.65
PhyloP100		-3.4

Splicing

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

Other links and lift over

dbSNP: rs13049130; hg19: chr21-46411685;