rs3742837

chr14-72714848-C-Achr14-72714848-C-Gchr14-72714848-C-T

Variant summary

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

The NM_001280542.3(DPF3):c.526-347G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.75 in 152,096 control chromosomes in the GnomAD database, including 42,937 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 0.75 (42937 hom., cov: 32)
• Consequence: DPF3 NM_001280542.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.542

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

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.769 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DPF3	NM_001280542.3	c.526-347G>T		intron_variant		ENST00000556509.6
DPF3	NM_001280543.2	c.556-347G>T		intron_variant
DPF3	NM_001280544.2	c.691-347G>T		intron_variant
DPF3	NM_012074.5	c.526-347G>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DPF3	ENST00000556509.6	c.526-347G>T		intron_variant		1	NM_001280542.3	P1

Frequencies

GnomAD3 genomes AF: 0.750 AC: 114027 AN: 151980 Hom.: 42931 Cov.: 32

Gnomad AFR AF: 0.718

Gnomad AMI AF: 0.686

Gnomad AMR AF: 0.768

Gnomad ASJ AF: 0.745

Gnomad EAS AF: 0.636

Gnomad SAS AF: 0.782

Gnomad FIN AF: 0.744

Gnomad MID AF: 0.845

Gnomad NFE AF: 0.775

Gnomad OTH AF: 0.735

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

GnomAD4 genome AF: 0.750 AC: 114066 AN: 152096 Hom.: 42937 Cov.: 32 AF XY: 0.750 AC XY: 55800 AN XY: 74352

Gnomad4 AFR AF: 0.717

Gnomad4 AMR AF: 0.768

Gnomad4 ASJ AF: 0.745

Gnomad4 EAS AF: 0.635

Gnomad4 SAS AF: 0.783

Gnomad4 FIN AF: 0.744

Gnomad4 NFE AF: 0.774

Gnomad4 OTH AF: 0.734

Alfa AF: 0.770 Hom.: 56565

Bravo AF: 0.749

Asia WGS AF: 0.721 AC: 2508 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
Cadd	Benign	1.2
Dann	Benign	0.59

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs3742837; hg19: chr14-73181556;