rs1882704

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NR_148361.1(TRD-AS1):​n.225+24881C>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 0.764 in 150,458 control chromosomes in the GnomAD database, including 44,124 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 0.76 ( 44124 hom., cov: 25)

Consequence

TRD-AS1
NR_148361.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.835
Variant links:
Genes affected
TRD-AS1 (HGNC:56197): (TRD antisense RNA 1)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.842 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
TRD-AS1NR_148361.1 linkuse as main transcriptn.225+24881C>T intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
TRD-AS1ENST00000514473.2 linkuse as main transcriptn.225+24881C>T intron_variant, non_coding_transcript_variant 2

Frequencies

GnomAD3 genomes
AF:
0.764
AC:
114858
AN:
150340
Hom.:
44078
Cov.:
25
show subpopulations
Gnomad AFR
AF:
0.849
Gnomad AMI
AF:
0.739
Gnomad AMR
AF:
0.716
Gnomad ASJ
AF:
0.739
Gnomad EAS
AF:
0.840
Gnomad SAS
AF:
0.805
Gnomad FIN
AF:
0.717
Gnomad MID
AF:
0.636
Gnomad NFE
AF:
0.725
Gnomad OTH
AF:
0.740
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.764
AC:
114966
AN:
150458
Hom.:
44124
Cov.:
25
AF XY:
0.765
AC XY:
56211
AN XY:
73440
show subpopulations
Gnomad4 AFR
AF:
0.849
Gnomad4 AMR
AF:
0.716
Gnomad4 ASJ
AF:
0.739
Gnomad4 EAS
AF:
0.839
Gnomad4 SAS
AF:
0.805
Gnomad4 FIN
AF:
0.717
Gnomad4 NFE
AF:
0.725
Gnomad4 OTH
AF:
0.744
Alfa
AF:
0.734
Hom.:
82391
Bravo
AF:
0.767
Asia WGS
AF:
0.814
AC:
2831
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.89
CADD
Benign
0.34
DANN
Benign
0.69

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1882704; hg19: chr14-22925352; API