rs6974325

Positions:

• chr7-6698852-G-A
• chr7-6698852-G-C
• chr7-6698852-G-T

Variant summary

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

The NM_016265.4(ZNF12):​c.16-1041C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.134 in 152,138 control chromosomes in the GnomAD database, including 2,342 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 0.13 (2342 hom., cov: 32)
• Consequence: ZNF12 NM_016265.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.671

Genes affected

ZNF12 (HGNC:12902): (zinc finger protein 12) This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.29 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ZNF12	NM_016265.4	c.16-1041C>T		intron_variant		ENST00000405858.6	NP_057349.2
ZNF12	NM_006956.3	c.16-1041C>T		intron_variant			NP_008887.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ZNF12	ENST00000405858.6	c.16-1041C>T		intron_variant		1	NM_016265.4	ENSP00000385939	P1
	ENST00000366167.2	n.136-9449G>A		intron_variant, non_coding_transcript_variant		4

Frequencies

GnomAD3 genomes AF: 0.134 AC: 20339 AN: 152018 Hom.: 2336 Cov.: 32

Gnomad AFR AF: 0.294

Gnomad AMI AF: 0.0132

Gnomad AMR AF: 0.115

Gnomad ASJ AF: 0.0631

Gnomad EAS AF: 0.275

Gnomad SAS AF: 0.156

Gnomad FIN AF: 0.0669

Gnomad MID AF: 0.0949

Gnomad NFE AF: 0.0450

Gnomad OTH AF: 0.104

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

GnomAD4 genome AF: 0.134 AC: 20371 AN: 152138 Hom.: 2342 Cov.: 32 AF XY: 0.136 AC XY: 10134 AN XY: 74390

Gnomad4 AFR AF: 0.294

Gnomad4 AMR AF: 0.115

Gnomad4 ASJ AF: 0.0631

Gnomad4 EAS AF: 0.276

Gnomad4 SAS AF: 0.156

Gnomad4 FIN AF: 0.0669

Gnomad4 NFE AF: 0.0450

Gnomad4 OTH AF: 0.107

Alfa AF: 0.0517 Hom.: 84

Bravo AF: 0.144

Asia WGS AF: 0.224 AC: 780 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	11
DANN	Benign	0.74

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: rs6974325; hg19: chr7-6738483;