chr8-122968457-T-G

Position:

• chr8-122968457-T-G

Variant summary

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

The NM_014943.5(ZHX2):​c.*5-4785T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.695 in 152,016 control chromosomes in the GnomAD database, including 37,086 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 0.69 (37086 hom., cov: 31)
• Consequence: ZHX2 NM_014943.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.339

Genes affected

ZHX2 (HGNC:18513): (zinc fingers and homeoboxes 2) The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008]

ZHX2 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.79 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ZHX2	NM_014943.5	c.*5-4785T>G		intron_variant		ENST00000314393.6	NP_055758.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ZHX2	ENST00000314393.6	c.*5-4785T>G		intron_variant		1	NM_014943.5	ENSP00000314709.4

Frequencies

GnomAD3 genomes AF: 0.695 AC: 105517 AN: 151898 Hom.: 37054 Cov.: 31

Gnomad AFR AF: 0.797

Gnomad AMI AF: 0.709

Gnomad AMR AF: 0.708

Gnomad ASJ AF: 0.665

Gnomad EAS AF: 0.779

Gnomad SAS AF: 0.770

Gnomad FIN AF: 0.658

Gnomad MID AF: 0.782

Gnomad NFE AF: 0.624

Gnomad OTH AF: 0.712

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

GnomAD4 genome AF: 0.695 AC: 105607 AN: 152016 Hom.: 37086 Cov.: 31 AF XY: 0.699 AC XY: 51939 AN XY: 74302

Gnomad4 AFR AF: 0.797

Gnomad4 AMR AF: 0.708

Gnomad4 ASJ AF: 0.665

Gnomad4 EAS AF: 0.779

Gnomad4 SAS AF: 0.770

Gnomad4 FIN AF: 0.658

Gnomad4 NFE AF: 0.624

Gnomad4 OTH AF: 0.715

Alfa AF: 0.636 Hom.: 61178

Bravo AF: 0.700

Asia WGS AF: 0.775 AC: 2693 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.1
DANN	Benign	0.67

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: rs7844465; hg19: chr8-123980697;