rs12436199

Positions:

• chr14-22348733-A-G
• chr14-22348733-A-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+52311T>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 0.782 in 150,760 control chromosomes in the GnomAD database, including 46,347 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 0.78 (46347 hom., cov: 25)
• Consequence: TRD-AS1 ENST00000656379.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.737

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=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.859 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TRD-AS1	ENST00000656379.1	n.270+52311T>C		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.782 AC: 117732 AN: 150642 Hom.: 46305 Cov.: 25

Gnomad AFR AF: 0.867

Gnomad AMI AF: 0.829

Gnomad AMR AF: 0.709

Gnomad ASJ AF: 0.663

Gnomad EAS AF: 0.822

Gnomad SAS AF: 0.813

Gnomad FIN AF: 0.731

Gnomad MID AF: 0.639

Gnomad NFE AF: 0.756

Gnomad OTH AF: 0.752

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

GnomAD4 genome AF: 0.782 AC: 117832 AN: 150760 Hom.: 46347 Cov.: 25 AF XY: 0.779 AC XY: 57302 AN XY: 73562

Gnomad4 AFR AF: 0.867

Gnomad4 AMR AF: 0.709

Gnomad4 ASJ AF: 0.663

Gnomad4 EAS AF: 0.822

Gnomad4 SAS AF: 0.812

Gnomad4 FIN AF: 0.731

Gnomad4 NFE AF: 0.756

Gnomad4 OTH AF: 0.755

Alfa AF: 0.755 Hom.: 20365

Bravo AF: 0.783

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.8

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12436199; hg19: chr14-22817156;