rs7611854

Positions:

• chr3-178971807-T-C
• chr3-178971807-T-G

Variant summary

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

The ENST00000652290.1(ZMAT3):​c.1038-6311A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.143 in 152,132 control chromosomes in the GnomAD database, including 2,359 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 0.14 (2359 hom., cov: 33)
• Consequence: ZMAT3 ENST00000652290.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.303

Genes affected

ZMAT3 (HGNC:29983): (zinc finger matrin-type 3) This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008]

LOC124906307 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.381 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC124906307	XR_007096177.1	n.1974-4849A>G		intron_variant
LOC124906307	XR_007096178.1	n.2071-6311A>G		intron_variant
LOC124906307	XR_007096179.1	n.1974-6311A>G		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ZMAT3	ENST00000652290.1	c.1038-6311A>G		intron_variant				ENSP00000498847.1

Frequencies

GnomAD3 genomes AF: 0.143 AC: 21748 AN: 152014 Hom.: 2353 Cov.: 33

Gnomad AFR AF: 0.269

Gnomad AMI AF: 0.0855

Gnomad AMR AF: 0.140

Gnomad ASJ AF: 0.0326

Gnomad EAS AF: 0.395

Gnomad SAS AF: 0.0545

Gnomad FIN AF: 0.0376

Gnomad MID AF: 0.0506

Gnomad NFE AF: 0.0777

Gnomad OTH AF: 0.128

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

GnomAD4 genome AF: 0.143 AC: 21770 AN: 152132 Hom.: 2359 Cov.: 33 AF XY: 0.141 AC XY: 10525 AN XY: 74386

Gnomad4 AFR AF: 0.269

Gnomad4 AMR AF: 0.140

Gnomad4 ASJ AF: 0.0326

Gnomad4 EAS AF: 0.395

Gnomad4 SAS AF: 0.0541

Gnomad4 FIN AF: 0.0376

Gnomad4 NFE AF: 0.0778

Gnomad4 OTH AF: 0.125

Alfa AF: 0.0883 Hom.: 380

Bravo AF: 0.161

Asia WGS AF: 0.199 AC: 690 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.4
DANN	Benign	0.75

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs7611854; hg19: chr3-178689595;