Variant 4-69098491-A-G details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_001074.4(UGT2B7):c.722-49A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.498 in 1,567,062 control chromosomes in the GnomAD database, including 200,178 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (no stars).

Frequency

Genomes: 𝑓 0.58 ( 26128 hom., cov: 30)

Exomes 𝑓: 0.49 ( 174050 hom. )

Consequence

UGT2B7
NM_001074.4 intron

Scores

Clinical Significance

drug response no assertion criteria provided O:1

Conservation

PhyloP100: -0.303

Variant links:

Genes affected

UGT2B7 (HGNC:12554): (UDP glucuronosyltransferase family 2 member B7) The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

UGT2B7 links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.82).

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.706 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	Effect	MANE
UGT2B7	NM_001074.4 linkuse as main transcript	c.722-49A>G	intron_variant	ENST00000305231.12
UGT2B7	NM_001330719.2 linkuse as main transcript	c.722-49A>G	intron_variant
UGT2B7	NM_001349568.2 linkuse as main transcript	c.-26-49A>G	intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
UGT2B7	ENST00000305231.12 linkuse as main transcript	c.722-49A>G		intron_variant		1	NM_001074.4	P1

Frequencies

GnomAD3 genomes

AF:

0.576

AC:

87059

AN:

151076

Hom.:

26083

Cov.:

show subpopulations

Gnomad AFR

AF:

0.713

Gnomad AMI

AF:

0.488

Gnomad AMR

AF:

0.659

Gnomad ASJ

AF:

0.512

Gnomad EAS

AF:

0.702

Gnomad SAS

AF:

0.604

Gnomad FIN

AF:

0.570

Gnomad MID

AF:

0.576

Gnomad NFE

AF:

0.468

Gnomad OTH

AF:

0.587

GnomAD3 exomes

AF:

0.549

AC:

116698

AN:

212428

Hom.:

33188

AF XY:

0.541

AC XY:

62993

AN XY:

116366

show subpopulations

Gnomad AFR exome

AF:

0.713

Gnomad AMR exome

AF:

0.693

Gnomad ASJ exome

AF:

0.496

Gnomad EAS exome

AF:

0.698

Gnomad SAS exome

AF:

0.564

Gnomad FIN exome

AF:

0.579

Gnomad NFE exome

AF:

0.469

Gnomad OTH exome

AF:

0.526

GnomAD4 exome

AF:

0.489

AC:

692468

AN:

1415874

Hom.:

174050

Cov.:

AF XY:

0.490

AC XY:

344857

AN XY:

703380

show subpopulations

Gnomad4 AFR exome

AF:

0.714

Gnomad4 AMR exome

AF:

0.689

Gnomad4 ASJ exome

AF:

0.505

Gnomad4 EAS exome

AF:

0.703

Gnomad4 SAS exome

AF:

0.561

Gnomad4 FIN exome

AF:

0.577

Gnomad4 NFE exome

AF:

0.458

Gnomad4 OTH exome

AF:

0.514

GnomAD4 genome

AF:

0.576

AC:

87156

AN:

151188

Hom.:

26128

Cov.:

AF XY:

0.585

AC XY:

43161

AN XY:

73756

show subpopulations

Gnomad4 AFR

AF:

0.713

Gnomad4 AMR

AF:

0.660

Gnomad4 ASJ

AF:

0.512

Gnomad4 EAS

AF:

0.701

Gnomad4 SAS

AF:

0.604

Gnomad4 FIN

AF:

0.570

Gnomad4 NFE

AF:

0.468

Gnomad4 OTH

AF:

0.587

Alfa

AF:

0.409

Hom.:

1873

Bravo

AF:

0.590

Asia WGS

AF:

0.656

AC:

2277

AN:

3474

ClinVar

Significance: drug response

Submissions summary: Other:1

Revision: no assertion criteria provided

LINK: link

Submissions by phenotype

Tramadol response

Other:1

drug response, no assertion criteria provided

research

Bruce Budowle Laboratory, University of North Texas Health Science Center

Apr 28, 2018

- T:M1 = postmortem ratio or tramadol to O-desmethyltramadol; t-MP = model-based clustered metabolizer phenotype inferred from T:M1

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.82

CADD

Benign

1.0

DANN

Benign

0.57

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

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over