dbSNP rs7441750: UGT2B7:c.870+115G>A (chr4-69098803-G-A) – ACMG Classification: Benign (-12 pts)

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_001074.4(UGT2B7):c.870+115G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.499 in 1,532,098 control chromosomes in the GnomAD database, including 196,687 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 0.58 ( 26290 hom., cov: 32)

Exomes 𝑓: 0.49 ( 170397 hom. )

Consequence

UGT2B7
NM_001074.4 intron

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.185

Publications

2 publications found

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:

ENSG00000299782 (HGNC:):

ENSG00000299782 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

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

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.85).

BA1

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	Effect	Exon rank	MANE	Protein	UniProt
UGT2B7	NM_001074.4 link	c.870+115G>A	intron_variant	Intron 2 of 5	ENST00000305231.12	NP_001065.2	P16662
UGT2B7	NM_001330719.2 link	c.870+115G>A	intron_variant	Intron 2 of 4		NP_001317648.1	P16662E9PBP8
UGT2B7	NM_001349568.2 link	c.123+115G>A	intron_variant	Intron 3 of 6		NP_001336497.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
UGT2B7	ENST00000305231.12 link	c.870+115G>A		intron_variant	Intron 2 of 5	1	NM_001074.4	ENSP00000304811.7		P16662

Frequencies

GnomAD3 genomes

AF:

0.577

AC:

87528

AN:

151666

Hom.:

26244

Cov.:

show subpopulations

Gnomad AFR

AF:

0.713

Gnomad AMI

AF:

0.488

Gnomad AMR

AF:

0.659

Gnomad ASJ

AF:

0.511

Gnomad EAS

AF:

0.703

Gnomad SAS

AF:

0.604

Gnomad FIN

AF:

0.576

Gnomad MID

AF:

0.579

Gnomad NFE

AF:

0.469

Gnomad OTH

AF:

0.588

GnomAD4 exome

AF:

0.490

AC:

676963

AN:

1380314

Hom.:

170397

AF XY:

0.492

AC XY:

337457

AN XY:

686172

show subpopulations

African (AFR)

AF:

0.717

AC:

21304

AN:

29732

American (AMR)

AF:

0.696

AC:

21102

AN:

30340

Ashkenazi Jewish (ASJ)

AF:

0.510

AC:

11552

AN:

22644

East Asian (EAS)

AF:

0.703

AC:

27272

AN:

38814

South Asian (SAS)

AF:

0.565

AC:

42678

AN:

75584

European-Finnish (FIN)

AF:

0.579

AC:

29707

AN:

51342

Middle Eastern (MID)

AF:

0.534

AC:

2327

AN:

4360

European-Non Finnish (NFE)

AF:

0.459

AC:

491761

AN:

1070726

Other (OTH)

AF:

0.515

AC:

29260

AN:

56772

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.498

Heterozygous variant carriers

16194

32387

48581

64774

80968

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Exome Het

Exome Hom

Variant carriers

15020

30040

45060

60080

75100

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

GnomAD4 genome

AF:

0.577

AC:

87629

AN:

151784

Hom.:

26290

Cov.:

AF XY:

0.586

AC XY:

43477

AN XY:

74162

show subpopulations

African (AFR)

AF:

0.713

AC:

29577

AN:

41474

American (AMR)

AF:

0.660

AC:

10031

AN:

15202

Ashkenazi Jewish (ASJ)

AF:

0.511

AC:

1773

AN:

3468

East Asian (EAS)

AF:

0.702

AC:

3615

AN:

5148

South Asian (SAS)

AF:

0.604

AC:

2907

AN:

4810

European-Finnish (FIN)

AF:

0.576

AC:

6070

AN:

10546

Middle Eastern (MID)

AF:

0.588

AC:

173

AN:

294

European-Non Finnish (NFE)

AF:

0.469

AC:

31796

AN:

67818

Other (OTH)

AF:

0.588

AC:

1242

AN:

2112

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.504

Heterozygous variant carriers

1843

3687

5530

7374

9217

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

724

1448

2172

2896

3620

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.398

Hom.:

1195

Bravo

AF:

0.590

Asia WGS

AF:

0.657

AC:

2283

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.85

CADD

Benign

0.0060

(source)

DANN

Benign

0.74

PhyloP100

-0.18

Mutation Taster

=100/0

polymorphism (auto)

(source)

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

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over