rs32793

Variant names:

• chr5-32073460-A-G
• rs32793
• NM_178140.4:c.2726-372A>G

Your query was ambiguous. Multiple possible variants found:

• chr5-32073460-A-G
• chr5-32073460-A-T

Variant summary

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

The NM_178140.4(PDZD2):​c.2726-372A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.345 in 151,992 control chromosomes in the GnomAD database, including 10,245 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 (10245 hom., cov: 32)
• Consequence: PDZD2 NM_178140.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.48
• Publications: 4 publications found

Genes affected

PDZD2 (HGNC:18486): (PDZ domain containing 2) The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.516 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PDZD2	NM_178140.4	c.2726-372A>G		intron_variant	Intron 17 of 24	ENST00000438447.2	NP_835260.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PDZD2	ENST00000438447.2	c.2726-372A>G		intron_variant	Intron 17 of 24	1	NM_178140.4	ENSP00000402033.1
PDZD2	ENST00000502489.5	n.2482-372A>G		intron_variant	Intron 16 of 17	2

Frequencies

GnomAD3 genomes AF: 0.345 AC: 52348 AN: 151874 Hom.: 10229 Cov.: 32

Gnomad AFR AF: 0.522

Gnomad AMI AF: 0.400

Gnomad AMR AF: 0.319

Gnomad ASJ AF: 0.264

Gnomad EAS AF: 0.464

Gnomad SAS AF: 0.465

Gnomad FIN AF: 0.235

Gnomad MID AF: 0.244

Gnomad NFE AF: 0.247

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.345 AC: 52412 AN: 151992 Hom.: 10245 Cov.: 32 AF XY: 0.348 AC XY: 25808 AN XY: 74266

African (AFR) AF: 0.522 AC: 21620 AN: 41428

American (AMR) AF: 0.319 AC: 4863 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.264 AC: 916 AN: 3468

East Asian (EAS) AF: 0.464 AC: 2400 AN: 5172

South Asian (SAS) AF: 0.463 AC: 2230 AN: 4812

European-Finnish (FIN) AF: 0.235 AC: 2478 AN: 10558

Middle Eastern (MID) AF: 0.259 AC: 76 AN: 294

European-Non Finnish (NFE) AF: 0.247 AC: 16817 AN: 67982

Other (OTH) AF: 0.307 AC: 648 AN: 2110

Alfa AF: 0.268 Hom.: 13664

Bravo AF: 0.353

Asia WGS AF: 0.456 AC: 1583 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.18
DANN	Benign	0.67
PhyloP100		-2.5
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.040		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: rs32793; hg19: chr5-32073566;