rs1517702

Positions:

• chr2-179501964-T-A

Variant summary

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

The NM_152520.6(ZNF385B):​c.552+16564A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.441 in 152,056 control chromosomes in the GnomAD database, including 16,814 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 0.44 (16814 hom., cov: 32)
• Consequence: ZNF385B NM_152520.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.214

Genes affected

ZNF385B (HGNC:26332): (zinc finger protein 385B) Enables p53 binding activity. Involved in intrinsic apoptotic signaling pathway by p53 class mediator. Located 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=-0.71).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.57 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ZNF385B	NM_152520.6	c.552+16564A>T		intron_variant		ENST00000410066.7	NP_689733.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ZNF385B	ENST00000410066.7	c.552+16564A>T		intron_variant		1	NM_152520.6	ENSP00000386845	P1

Frequencies

GnomAD3 genomes AF: 0.441 AC: 67030 AN: 151938 Hom.: 16818 Cov.: 32

Gnomad AFR AF: 0.261

Gnomad AMI AF: 0.564

Gnomad AMR AF: 0.366

Gnomad ASJ AF: 0.498

Gnomad EAS AF: 0.0208

Gnomad SAS AF: 0.414

Gnomad FIN AF: 0.581

Gnomad MID AF: 0.519

Gnomad NFE AF: 0.575

Gnomad OTH AF: 0.457

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

GnomAD4 genome AF: 0.441 AC: 67039 AN: 152056 Hom.: 16814 Cov.: 32 AF XY: 0.436 AC XY: 32384 AN XY: 74312

Gnomad4 AFR AF: 0.261

Gnomad4 AMR AF: 0.365

Gnomad4 ASJ AF: 0.498

Gnomad4 EAS AF: 0.0210

Gnomad4 SAS AF: 0.414

Gnomad4 FIN AF: 0.581

Gnomad4 NFE AF: 0.575

Gnomad4 OTH AF: 0.452

Alfa AF: 0.512 Hom.: 2651

Bravo AF: 0.411

Asia WGS AF: 0.221 AC: 767 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.71
CADD	Benign	4.1
DANN	Benign	0.85

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: rs1517702; hg19: chr2-180366691;