3-141418193-G-A

Variant names:

• chr3-141418193-G-A
• rs9825379
• NM_001376113.1:c.-1+14162G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001376113.1(ZBTB38):​c.-1+14162G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.131 in 151,952 control chromosomes in the GnomAD database, including 2,198 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 (2198 hom., cov: 32)
• Consequence: ZBTB38 NM_001376113.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.427
• Publications: 16 publications found

Genes affected

ZBTB38 (HGNC:26636): (zinc finger and BTB domain containing 38) The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.294 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001376113.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZBTB38	NM_001376113.1	MANE Select	c.-1+14162G>A		intron	N/A	NP_001363042.1
	ZBTB38	NM_001080412.3		c.-1+14162G>A		intron	N/A	NP_001073881.2
	ZBTB38	NM_001350099.2		c.-190-13959G>A		intron	N/A	NP_001337028.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZBTB38	ENST00000321464.7	TSL:6 MANE Select	c.-1+14162G>A		intron	N/A	ENSP00000372635.5
	ZBTB38	ENST00000509883.5	TSL:1	c.-1+14162G>A		intron	N/A	ENSP00000424254.1
	ZBTB38	ENST00000509842.5	TSL:1	c.-1+14162G>A		intron	N/A	ENSP00000426931.1

Frequencies

GnomAD3 genomes AF: 0.130 AC: 19808 AN: 151834 Hom.: 2192 Cov.: 32

Gnomad AFR AF: 0.298

Gnomad AMI AF: 0.0296

Gnomad AMR AF: 0.102

Gnomad ASJ AF: 0.0248

Gnomad EAS AF: 0.182

Gnomad SAS AF: 0.0640

Gnomad FIN AF: 0.0420

Gnomad MID AF: 0.0538

Gnomad NFE AF: 0.0575

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.131 AC: 19832 AN: 151952 Hom.: 2198 Cov.: 32 AF XY: 0.130 AC XY: 9634 AN XY: 74308

African (AFR) AF: 0.298 AC: 12327 AN: 41360

American (AMR) AF: 0.102 AC: 1556 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.0248 AC: 86 AN: 3468

East Asian (EAS) AF: 0.182 AC: 938 AN: 5148

South Asian (SAS) AF: 0.0636 AC: 306 AN: 4810

European-Finnish (FIN) AF: 0.0420 AC: 445 AN: 10584

Middle Eastern (MID) AF: 0.0612 AC: 18 AN: 294

European-Non Finnish (NFE) AF: 0.0574 AC: 3905 AN: 67982

Other (OTH) AF: 0.106 AC: 224 AN: 2106

Alfa AF: 0.0772 Hom.: 3398

Bravo AF: 0.140

Asia WGS AF: 0.101 AC: 350 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.46
DANN	Benign	0.51
PhyloP100		-0.43
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs9825379; hg19: chr3-141137035;