rs17300167

Positions:

• chr19-53101794-A-G

Variant summary

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

The NM_001322131.2(ZNF160):​c.-354+1471T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.05 in 152,324 control chromosomes in the GnomAD database, including 285 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 0.050 (285 hom., cov: 34)
• Consequence: ZNF160 NM_001322131.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.374

Genes affected

ZNF160 (HGNC:12948): (zinc finger protein 160) The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Multiple transcript variants have been found for this gene. [provided by RefSeq, Apr 2016]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0751 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ZNF160	NM_001322131.2	c.-354+1471T>C		intron_variant		ENST00000683776.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ZNF160	ENST00000683776.1	c.-354+1471T>C		intron_variant			NM_001322131.2	P1

Frequencies

GnomAD3 genomes AF: 0.0500 AC: 7608 AN: 152206 Hom.: 285 Cov.: 34

Gnomad AFR AF: 0.0146

Gnomad AMI AF: 0.141

Gnomad AMR AF: 0.0458

Gnomad ASJ AF: 0.0401

Gnomad EAS AF: 0.000385

Gnomad SAS AF: 0.0176

Gnomad FIN AF: 0.0590

Gnomad MID AF: 0.0253

Gnomad NFE AF: 0.0768

Gnomad OTH AF: 0.0421

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

GnomAD4 genome AF: 0.0500 AC: 7612 AN: 152324 Hom.: 285 Cov.: 34 AF XY: 0.0483 AC XY: 3597 AN XY: 74486

Gnomad4 AFR AF: 0.0146

Gnomad4 AMR AF: 0.0458

Gnomad4 ASJ AF: 0.0401

Gnomad4 EAS AF: 0.000386

Gnomad4 SAS AF: 0.0176

Gnomad4 FIN AF: 0.0590

Gnomad4 NFE AF: 0.0768

Gnomad4 OTH AF: 0.0417

Alfa AF: 0.0656 Hom.: 208

Bravo AF: 0.0490

Asia WGS AF: 0.0110 AC: 38 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	7.3
DANN	Benign	0.66

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: rs17300167; hg19: chr19-53605047;