rs10873018

chr14-22445002-G-Achr14-22445002-G-C

Variant summary

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

The NR_148361.1(TRD-AS1):n.225+36239C>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 0.519 in 149,670 control chromosomes in the GnomAD database, including 20,432 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 0.52 (20432 hom., cov: 24)
• Consequence: TRD-AS1 NR_148361.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.356

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=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.682 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
TRD-AS1	NR_148361.1	n.225+36239C>T		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
TRD-AS1	ENST00000514473.2	n.225+36239C>T		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.519 AC: 77631 AN: 149552 Hom.: 20425 Cov.: 24

Gnomad AFR AF: 0.543

Gnomad AMI AF: 0.635

Gnomad AMR AF: 0.402

Gnomad ASJ AF: 0.552

Gnomad EAS AF: 0.702

Gnomad SAS AF: 0.661

Gnomad FIN AF: 0.519

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.505

Gnomad OTH AF: 0.478

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

GnomAD4 genome AF: 0.519 AC: 77684 AN: 149670 Hom.: 20432 Cov.: 24 AF XY: 0.522 AC XY: 38141 AN XY: 73030

Gnomad4 AFR AF: 0.543

Gnomad4 AMR AF: 0.402

Gnomad4 ASJ AF: 0.552

Gnomad4 EAS AF: 0.701

Gnomad4 SAS AF: 0.660

Gnomad4 FIN AF: 0.519

Gnomad4 NFE AF: 0.505

Gnomad4 OTH AF: 0.481

Alfa AF: 0.498 Hom.: 19569

Bravo AF: 0.506

Asia WGS AF: 0.672 AC: 2336 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
Cadd	Benign	6.6
Dann	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10873018; hg19: chr14-22913994;