rs3884935

Variant names:

• chr22-39024088-A-G
• rs3884935
• NM_152426.4:c.211-982A>G

Your query was ambiguous. Multiple possible variants found:

• chr22-39024088-A-G
• chr22-39024088-A-T

Variant summary

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

The NM_152426.4(APOBEC3D):​c.211-982A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.311 in 152,192 control chromosomes in the GnomAD database, including 8,038 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 0.31 (8038 hom., cov: 32)
• Consequence: APOBEC3D NM_152426.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.153
• Publications: 8 publications found

Genes affected

APOBEC3D (HGNC:17354): (apolipoprotein B mRNA editing enzyme catalytic subunit 3D) This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008]

ENSG00000284554 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.392 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_152426.4. 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
	APOBEC3D	NM_152426.4	MANE Select	c.211-982A>G		intron	N/A	NP_689639.2	Q96AK3
	APOBEC3D	NM_001363781.1		c.210+1074A>G		intron	N/A	NP_001350710.1	Q6ICH2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	APOBEC3D	ENST00000216099.13	TSL:2 MANE Select	c.211-982A>G		intron	N/A	ENSP00000216099.7	Q96AK3
	ENSG00000284554	ENST00000381568.9	TSL:1	c.211-982A>G		intron	N/A	ENSP00000370980.4
	APOBEC3D	ENST00000427494.6	TSL:1	c.210+1074A>G		intron	N/A	ENSP00000388017.2	Q6ICH2

Frequencies

GnomAD3 genomes AF: 0.311 AC: 47331 AN: 152072 Hom.: 8041 Cov.: 32

Gnomad AFR AF: 0.190

Gnomad AMI AF: 0.382

Gnomad AMR AF: 0.401

Gnomad ASJ AF: 0.395

Gnomad EAS AF: 0.335

Gnomad SAS AF: 0.376

Gnomad FIN AF: 0.234

Gnomad MID AF: 0.437

Gnomad NFE AF: 0.363

Gnomad OTH AF: 0.363

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

GnomAD4 genome AF: 0.311 AC: 47335 AN: 152192 Hom.: 8038 Cov.: 32 AF XY: 0.308 AC XY: 22891 AN XY: 74406

African (AFR) AF: 0.190 AC: 7889 AN: 41536

American (AMR) AF: 0.401 AC: 6124 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.395 AC: 1371 AN: 3472

East Asian (EAS) AF: 0.335 AC: 1737 AN: 5178

South Asian (SAS) AF: 0.376 AC: 1810 AN: 4818

European-Finnish (FIN) AF: 0.234 AC: 2482 AN: 10592

Middle Eastern (MID) AF: 0.422 AC: 124 AN: 294

European-Non Finnish (NFE) AF: 0.363 AC: 24687 AN: 67994

Other (OTH) AF: 0.361 AC: 763 AN: 2114

Alfa AF: 0.175 Hom.: 352

Bravo AF: 0.321

Asia WGS AF: 0.312 AC: 1085 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.5
DANN	Benign	0.31
PhyloP100		-0.15
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: rs3884935; hg19: chr22-39420093;