rs13111134

Positions:

• chr4-69489093-G-A

Variant summary

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

The NM_021139.3(UGT2B4):​c.1002+346C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.203 in 151,842 control chromosomes in the GnomAD database, including 3,616 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 0.20 (3616 hom., cov: 32)
• Consequence: UGT2B4 NM_021139.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.279

Genes affected

UGT2B4 (HGNC:12553): (UDP glucuronosyltransferase family 2 member B4) Enables glucuronosyltransferase activity. Involved in cellular glucuronidation and estrogen metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.266 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
UGT2B4	NM_021139.3	c.1002+346C>T		intron_variant		ENST00000305107.7	NP_066962.2
UGT2B4	NM_001297615.2	c.1002+346C>T		intron_variant			NP_001284544.1
UGT2B4	NM_001297616.2	c.594+346C>T		intron_variant			NP_001284545.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
UGT2B4	ENST00000305107.7	c.1002+346C>T		intron_variant		1	NM_021139.3	ENSP00000305221	P1
UGT2B4	ENST00000512583.5	c.1002+346C>T		intron_variant		1		ENSP00000421290
UGT2B4	ENST00000502655.5	n.879+346C>T		intron_variant, non_coding_transcript_variant		5
UGT2B4	ENST00000506580.5	n.784+346C>T		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes AF: 0.203 AC: 30800 AN: 151724 Hom.: 3612 Cov.: 32

Gnomad AFR AF: 0.111

Gnomad AMI AF: 0.233

Gnomad AMR AF: 0.242

Gnomad ASJ AF: 0.190

Gnomad EAS AF: 0.00271

Gnomad SAS AF: 0.0971

Gnomad FIN AF: 0.228

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.270

Gnomad OTH AF: 0.203

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

GnomAD4 genome AF: 0.203 AC: 30815 AN: 151842 Hom.: 3616 Cov.: 32 AF XY: 0.198 AC XY: 14696 AN XY: 74212

Gnomad4 AFR AF: 0.110

Gnomad4 AMR AF: 0.242

Gnomad4 ASJ AF: 0.190

Gnomad4 EAS AF: 0.00272

Gnomad4 SAS AF: 0.0968

Gnomad4 FIN AF: 0.228

Gnomad4 NFE AF: 0.270

Gnomad4 OTH AF: 0.204

Alfa AF: 0.240 Hom.: 2183

Bravo AF: 0.203

Asia WGS AF: 0.0810 AC: 281 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.41
DANN	Benign	0.59

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: rs13111134; hg19: chr4-70354811;