chr14-72793767-G-A

Variant names:

• chr14-72793767-G-A
• rs12435412
• NM_001280542.3:c.33-21874C>T

Variant summary

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

The NM_001280542.3(DPF3):​c.33-21874C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.145 in 152,184 control chromosomes in the GnomAD database, including 1,716 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 0.14 (1716 hom., cov: 32)
• Consequence: DPF3 NM_001280542.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.562
• Publications: 8 publications found

Genes affected

DPF3 (HGNC:17427): (double PHD fingers 3) This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.176 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001280542.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DPF3	NM_001280542.3	MANE Select	c.33-21874C>T		intron	N/A	NP_001267471.1
	DPF3	NM_001280544.2		c.198-21874C>T		intron	N/A	NP_001267473.1
	DPF3	NM_001280543.2		c.63-21874C>T		intron	N/A	NP_001267472.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DPF3	ENST00000556509.6	TSL:1 MANE Select	c.33-21874C>T		intron	N/A	ENSP00000450518.1
	DPF3	ENST00000381216.8	TSL:1	n.33-21874C>T		intron	N/A	ENSP00000370614.4
	DPF3	ENST00000366353.8	TSL:2	n.198-21874C>T		intron	N/A	ENSP00000381791.3

Frequencies

GnomAD3 genomes AF: 0.145 AC: 21991 AN: 152066 Hom.: 1715 Cov.: 32

Gnomad AFR AF: 0.117

Gnomad AMI AF: 0.167

Gnomad AMR AF: 0.154

Gnomad ASJ AF: 0.288

Gnomad EAS AF: 0.186

Gnomad SAS AF: 0.115

Gnomad FIN AF: 0.0649

Gnomad MID AF: 0.313

Gnomad NFE AF: 0.161

Gnomad OTH AF: 0.186

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

GnomAD4 genome AF: 0.145 AC: 22000 AN: 152184 Hom.: 1716 Cov.: 32 AF XY: 0.141 AC XY: 10494 AN XY: 74406

African (AFR) AF: 0.117 AC: 4868 AN: 41504

American (AMR) AF: 0.154 AC: 2348 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.288 AC: 998 AN: 3468

East Asian (EAS) AF: 0.186 AC: 962 AN: 5174

South Asian (SAS) AF: 0.115 AC: 556 AN: 4828

European-Finnish (FIN) AF: 0.0649 AC: 688 AN: 10606

Middle Eastern (MID) AF: 0.323 AC: 95 AN: 294

European-Non Finnish (NFE) AF: 0.161 AC: 10945 AN: 67996

Other (OTH) AF: 0.184 AC: 388 AN: 2108

Alfa AF: 0.154 Hom.: 1332

Bravo AF: 0.152

Asia WGS AF: 0.150 AC: 522 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.33
DANN	Benign	0.48
PhyloP100		-0.56
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: rs12435412; hg19: chr14-73260475;