rs2032442

chr14-22347527-G-Achr14-22347527-G-T

Variant summary

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

The ENST00000656379.1(TRD-AS1):n.270+53517C>T 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 0.687 in 150,864 control chromosomes in the GnomAD database, including 35,804 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 0.69 (35804 hom., cov: 26)
• Consequence: TRD-AS1 ENST00000656379.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0120

Genes affected

TRD-AS1 (HGNC:56197): (TRD antisense RNA 1)

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 = 0.78 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
TRD-AS1	ENST00000656379.1	n.270+53517C>T		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.687 AC: 103607 AN: 150746 Hom.: 35781 Cov.: 26

Gnomad AFR AF: 0.721

Gnomad AMI AF: 0.639

Gnomad AMR AF: 0.639

Gnomad ASJ AF: 0.588

Gnomad EAS AF: 0.801

Gnomad SAS AF: 0.720

Gnomad FIN AF: 0.687

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.674

Gnomad OTH AF: 0.664

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

GnomAD4 genome AF: 0.687 AC: 103682 AN: 150864 Hom.: 35804 Cov.: 26 AF XY: 0.686 AC XY: 50552 AN XY: 73666

Gnomad4 AFR AF: 0.721

Gnomad4 AMR AF: 0.639

Gnomad4 ASJ AF: 0.588

Gnomad4 EAS AF: 0.801

Gnomad4 SAS AF: 0.719

Gnomad4 FIN AF: 0.687

Gnomad4 NFE AF: 0.674

Gnomad4 OTH AF: 0.668

Alfa AF: 0.672 Hom.: 42529

Bravo AF: 0.707

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	3.5

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2032442; hg19: chr14-22815950;