chr4-107931607-G-A

Variant summary

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

The NM_183075.3(CYP2U1):​c.-37G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.023 in 1,246,234 control chromosomes in the GnomAD database, including 863 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.051 ( 438 hom., cov: 33)
Exomes 𝑓: 0.019 ( 425 hom. )

Consequence

CYP2U1
NM_183075.3 5_prime_UTR

Scores

2

Clinical Significance

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

Conservation

PhyloP100: -1.54
Variant links:
Genes affected
CYP2U1 (HGNC:20582): (cytochrome P450 family 2 subfamily U member 1) This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]
CYP2U1-AS1 (HGNC:54817): (CYP2U1 and SGMS2 antisense RNA 1)

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=-0.84).
BP6
Variant 4-107931607-G-A is Benign according to our data. Variant chr4-107931607-G-A is described in ClinVar as [Benign]. Clinvar id is 380776.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.138 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
CYP2U1NM_183075.3 linkuse as main transcriptc.-37G>A 5_prime_UTR_variant 1/5 ENST00000332884.11
CYP2U1-AS1NR_125929.1 linkuse as main transcriptn.149+364C>T intron_variant, non_coding_transcript_variant
LOC107986298XR_001741784.2 linkuse as main transcriptn.205-21058C>T intron_variant, non_coding_transcript_variant
LOC124900751XR_007058221.1 linkuse as main transcript upstream_gene_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
CYP2U1ENST00000332884.11 linkuse as main transcriptc.-37G>A 5_prime_UTR_variant 1/51 NM_183075.3 P1Q7Z449-1
CYP2U1-AS1ENST00000656249.1 linkuse as main transcriptn.81-21058C>T intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes
AF:
0.0511
AC:
7767
AN:
152118
Hom.:
432
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.140
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.0297
Gnomad ASJ
AF:
0.00893
Gnomad EAS
AF:
0.00637
Gnomad SAS
AF:
0.0182
Gnomad FIN
AF:
0.0178
Gnomad MID
AF:
0.0256
Gnomad NFE
AF:
0.0154
Gnomad OTH
AF:
0.0478
GnomAD3 exomes
AF:
0.0188
AC:
268
AN:
14222
Hom.:
10
AF XY:
0.0151
AC XY:
123
AN XY:
8136
show subpopulations
Gnomad AFR exome
AF:
0.124
Gnomad AMR exome
AF:
0.0229
Gnomad ASJ exome
AF:
0.00714
Gnomad EAS exome
AF:
0.000627
Gnomad SAS exome
AF:
0.00448
Gnomad FIN exome
AF:
0.00221
Gnomad NFE exome
AF:
0.00959
Gnomad OTH exome
AF:
0.0225
GnomAD4 exome
AF:
0.0191
AC:
20870
AN:
1094008
Hom.:
425
Cov.:
30
AF XY:
0.0183
AC XY:
9530
AN XY:
519634
show subpopulations
Gnomad4 AFR exome
AF:
0.142
Gnomad4 AMR exome
AF:
0.0269
Gnomad4 ASJ exome
AF:
0.00947
Gnomad4 EAS exome
AF:
0.00719
Gnomad4 SAS exome
AF:
0.0196
Gnomad4 FIN exome
AF:
0.0182
Gnomad4 NFE exome
AF:
0.0160
Gnomad4 OTH exome
AF:
0.0271
GnomAD4 genome
AF:
0.0512
AC:
7801
AN:
152226
Hom.:
438
Cov.:
33
AF XY:
0.0497
AC XY:
3698
AN XY:
74426
show subpopulations
Gnomad4 AFR
AF:
0.141
Gnomad4 AMR
AF:
0.0296
Gnomad4 ASJ
AF:
0.00893
Gnomad4 EAS
AF:
0.00639
Gnomad4 SAS
AF:
0.0182
Gnomad4 FIN
AF:
0.0178
Gnomad4 NFE
AF:
0.0154
Gnomad4 OTH
AF:
0.0473
Alfa
AF:
0.00718
Hom.:
3
Bravo
AF:
0.0561
Asia WGS
AF:
0.0250
AC:
85
AN:
3466

ClinVar

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

Submissions by phenotype

not specified Benign:1
Benign, criteria provided, single submitterclinical testingGeneDxAug 04, 2016This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:1
Benign, criteria provided, single submitternot providedBreakthrough Genomics, Breakthrough Genomics-- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.84
CADD
Benign
0.67
DANN
Benign
0.83
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.0

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: rs112053024; hg19: chr4-108852763; API