rs3911499

Positions:

• chr3-21628727-G-A

Variant summary

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

The NM_024697.3(ZNF385D):​c.165+36159C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.543 in 151,790 control chromosomes in the GnomAD database, including 23,073 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 0.54 (23073 hom., cov: 31)
• Consequence: ZNF385D NM_024697.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.802

Genes affected

ZNF385D (HGNC:26191): (zinc finger protein 385D) Enables sequence-specific double-stranded DNA binding activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.609 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ZNF385D	NM_024697.3	c.165+36159C>T		intron_variant		ENST00000281523.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ZNF385D	ENST00000281523.8	c.165+36159C>T		intron_variant		1	NM_024697.3

Frequencies

GnomAD3 genomes AF: 0.543 AC: 82400 AN: 151672 Hom.: 23035 Cov.: 31

Gnomad AFR AF: 0.428

Gnomad AMI AF: 0.439

Gnomad AMR AF: 0.619

Gnomad ASJ AF: 0.566

Gnomad EAS AF: 0.607

Gnomad SAS AF: 0.619

Gnomad FIN AF: 0.682

Gnomad MID AF: 0.547

Gnomad NFE AF: 0.565

Gnomad OTH AF: 0.535

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

GnomAD4 genome AF: 0.543 AC: 82492 AN: 151790 Hom.: 23073 Cov.: 31 AF XY: 0.549 AC XY: 40720 AN XY: 74156

Gnomad4 AFR AF: 0.428

Gnomad4 AMR AF: 0.620

Gnomad4 ASJ AF: 0.566

Gnomad4 EAS AF: 0.607

Gnomad4 SAS AF: 0.620

Gnomad4 FIN AF: 0.682

Gnomad4 NFE AF: 0.565

Gnomad4 OTH AF: 0.540

Alfa AF: 0.558 Hom.: 12805

Bravo AF: 0.530

Asia WGS AF: 0.591 AC: 2056 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	4.4
DANN	Benign	0.59

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

Publications

LitVar

Other links and lift over

dbSNP: rs3911499; hg19: chr3-21670219;