chr3-191329004-G-C

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1

The NM_198152.5(UTS2B):​c.-664-295C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.449 in 152,236 control chromosomes in the GnomAD database, including 18,686 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.45 ( 18678 hom., cov: 33)
Exomes 𝑓: 0.34 ( 8 hom. )

Consequence

UTS2B
NM_198152.5 intron

Scores

2

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: -0.952
Variant links:
Genes affected
UTS2B (HGNC:30894): (urotensin 2B) Predicted to enable G protein-coupled receptor binding activity. Predicted to be involved in regulation of blood pressure. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -20 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BP6
Variant 3-191329004-G-C is Benign according to our data. Variant chr3-191329004-G-C is described in ClinVar as [Benign]. Clinvar id is 1273417.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.895 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
UTS2BNM_198152.5 linkuse as main transcriptc.-664-295C>G intron_variant ENST00000340524.10 NP_937795.2
UTS2BXM_011512631.3 linkuse as main transcriptc.-461C>G 5_prime_UTR_variant 1/8 XP_011510933.1
UTS2BXM_017006091.2 linkuse as main transcriptc.-461C>G 5_prime_UTR_variant 1/8 XP_016861580.1
UTS2BXM_047447899.1 linkuse as main transcriptc.-260-295C>G intron_variant XP_047303855.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
UTS2BENST00000340524.10 linkuse as main transcriptc.-664-295C>G intron_variant 2 NM_198152.5 ENSP00000340526 P1
UTS2BENST00000432514.5 linkuse as main transcriptc.-831-295C>G intron_variant 5 ENSP00000401028
UTS2BENST00000464814.1 linkuse as main transcriptn.309C>G non_coding_transcript_exon_variant 1/25
UTS2BENST00000490825.1 linkuse as main transcriptn.240-32C>G intron_variant, non_coding_transcript_variant 5

Frequencies

GnomAD3 genomes
AF:
0.449
AC:
68233
AN:
152024
Hom.:
18653
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.712
Gnomad AMI
AF:
0.152
Gnomad AMR
AF:
0.467
Gnomad ASJ
AF:
0.309
Gnomad EAS
AF:
0.917
Gnomad SAS
AF:
0.575
Gnomad FIN
AF:
0.287
Gnomad MID
AF:
0.491
Gnomad NFE
AF:
0.277
Gnomad OTH
AF:
0.400
GnomAD4 exome
AF:
0.340
AC:
32
AN:
94
Hom.:
8
Cov.:
0
AF XY:
0.348
AC XY:
23
AN XY:
66
show subpopulations
Gnomad4 AFR exome
AF:
0.667
Gnomad4 SAS exome
AF:
0.750
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.286
Gnomad4 OTH exome
AF:
0.833
GnomAD4 genome
AF:
0.449
AC:
68305
AN:
152142
Hom.:
18678
Cov.:
33
AF XY:
0.456
AC XY:
33909
AN XY:
74386
show subpopulations
Gnomad4 AFR
AF:
0.712
Gnomad4 AMR
AF:
0.467
Gnomad4 ASJ
AF:
0.309
Gnomad4 EAS
AF:
0.917
Gnomad4 SAS
AF:
0.575
Gnomad4 FIN
AF:
0.287
Gnomad4 NFE
AF:
0.277
Gnomad4 OTH
AF:
0.403
Alfa
AF:
0.351
Hom.:
1403
Bravo
AF:
0.473
Asia WGS
AF:
0.729
AC:
2530
AN:
3478

ClinVar

Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link

Submissions by phenotype

not provided Benign:2
Benign, criteria provided, single submitternot providedBreakthrough Genomics, Breakthrough Genomics-- -
Benign, criteria provided, single submitterclinical testingGeneDxNov 10, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.83
CADD
Benign
1.7
DANN
Benign
0.56

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.

Other links and lift over

dbSNP: rs6779820; hg19: chr3-191046793; API