rs7005380

Variant names:

• chr8-119941633-G-A
• rs7005380
• NM_022783.4:c.425+11695G>A

Your query was ambiguous. Multiple possible variants found:

• chr8-119941633-G-A
• chr8-119941633-G-C
• chr8-119941633-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_022783.4(DEPTOR):​c.425+11695G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.335 in 151,892 control chromosomes in the GnomAD database, including 9,091 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 (9091 hom., cov: 32)
• Consequence: DEPTOR NM_022783.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0650
• Publications: 12 publications found

Genes affected

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

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.539 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_022783.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DEPTOR	NM_022783.4	MANE Select	c.425+11695G>A		intron	N/A	NP_073620.2	Q8TB45-1
	DEPTOR	NM_001283012.2		c.123-23599G>A		intron	N/A	NP_001269941.1	Q8TB45-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DEPTOR	ENST00000286234.6	TSL:1 MANE Select	c.425+11695G>A		intron	N/A	ENSP00000286234.5	Q8TB45-1
	DEPTOR	ENST00000896812.1		c.425+11695G>A		intron	N/A	ENSP00000566871.1
	DEPTOR	ENST00000896813.1		c.425+11695G>A		intron	N/A	ENSP00000566872.1

Frequencies

GnomAD3 genomes AF: 0.335 AC: 50896 AN: 151772 Hom.: 9086 Cov.: 32

Gnomad AFR AF: 0.284

Gnomad AMI AF: 0.322

Gnomad AMR AF: 0.256

Gnomad ASJ AF: 0.447

Gnomad EAS AF: 0.0688

Gnomad SAS AF: 0.556

Gnomad FIN AF: 0.445

Gnomad MID AF: 0.453

Gnomad NFE AF: 0.366

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.335 AC: 50933 AN: 151892 Hom.: 9091 Cov.: 32 AF XY: 0.340 AC XY: 25249 AN XY: 74226

African (AFR) AF: 0.285 AC: 11794 AN: 41434

American (AMR) AF: 0.256 AC: 3902 AN: 15236

Ashkenazi Jewish (ASJ) AF: 0.447 AC: 1550 AN: 3466

East Asian (EAS) AF: 0.0681 AC: 352 AN: 5166

South Asian (SAS) AF: 0.556 AC: 2677 AN: 4814

European-Finnish (FIN) AF: 0.445 AC: 4683 AN: 10512

Middle Eastern (MID) AF: 0.456 AC: 134 AN: 294

European-Non Finnish (NFE) AF: 0.366 AC: 24874 AN: 67952

Other (OTH) AF: 0.320 AC: 675 AN: 2110

Alfa AF: 0.340 Hom.: 6989

Bravo AF: 0.317

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	6.2
DANN	Benign	0.80
PhyloP100		0.065
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs7005380; hg19: chr8-120953873;