rs7840156

Positions:

• chr8-119873704-T-C

Variant summary

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

The ENST00000500705.3(DEPTOR-AS1):​n.785A>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 0.312 in 1,227,428 control chromosomes in the GnomAD database, including 63,792 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 0.34 (9506 hom., cov: 33)
  • Exomes 𝑓: 0.31 (54286 hom.)
• Consequence: DEPTOR-AS1 ENST00000500705.3 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.506

Genes affected

DEPTOR-AS1 (HGNC:55602): (DEPTOR antisense RNA 1)

DEPTOR (HGNC:22953): (DEP domain containing MTOR interacting protein) Involved in several processes, including negative regulation of TOR signaling; negative regulation of cell size; and negative regulation of protein kinase activity. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.69).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.488 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DEPTOR	NM_022783.4			upstream_gene_variant		ENST00000286234.6
DEPTOR	NM_001283012.2			upstream_gene_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DEPTOR-AS1	ENST00000500705.3	n.785A>G		non_coding_transcript_exon_variant	1/2	5
DEPTOR-AS1	ENST00000523563.1	n.198-393A>G		intron_variant, non_coding_transcript_variant		3
DEPTOR	ENST00000286234.6			upstream_gene_variant		1	NM_022783.4	P1
DEPTOR	ENST00000523492.5			upstream_gene_variant		2

Frequencies

GnomAD3 genomes AF: 0.339 AC: 51596 AN: 152018 Hom.: 9498 Cov.: 33

Gnomad AFR AF: 0.451

Gnomad AMI AF: 0.380

Gnomad AMR AF: 0.224

Gnomad ASJ AF: 0.325

Gnomad EAS AF: 0.0541

Gnomad SAS AF: 0.505

Gnomad FIN AF: 0.343

Gnomad MID AF: 0.225

Gnomad NFE AF: 0.309

Gnomad OTH AF: 0.292

GnomAD4 exome AF: 0.308 AC: 330957 AN: 1075290 Hom.: 54286 Cov.: 14 AF XY: 0.313 AC XY: 165424 AN XY: 528628

Gnomad4 AFR exome AF: 0.471

Gnomad4 AMR exome AF: 0.212

Gnomad4 ASJ exome AF: 0.317

Gnomad4 EAS exome AF: 0.0566

Gnomad4 SAS exome AF: 0.507

Gnomad4 FIN exome AF: 0.327

Gnomad4 NFE exome AF: 0.300

Gnomad4 OTH exome AF: 0.302

GnomAD4 genome AF: 0.339 AC: 51649 AN: 152138 Hom.: 9506 Cov.: 33 AF XY: 0.338 AC XY: 25173 AN XY: 74372

Gnomad4 AFR AF: 0.451

Gnomad4 AMR AF: 0.224

Gnomad4 ASJ AF: 0.325

Gnomad4 EAS AF: 0.0536

Gnomad4 SAS AF: 0.505

Gnomad4 FIN AF: 0.343

Gnomad4 NFE AF: 0.309

Gnomad4 OTH AF: 0.291

Alfa AF: 0.335 Hom.: 1094

Bravo AF: 0.328

Asia WGS AF: 0.294 AC: 1023 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.69
CADD	Benign	16
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7840156; hg19: chr8-120885944; COSMIC: COSV53815587;