rs8133951

Variant summary

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

The NM_001004416.3(UMODL1):​c.320-1328G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.303 in 152,164 control chromosomes in the GnomAD database, including 8,191 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 0.30 ( 8191 hom., cov: 33)

Consequence

UMODL1
NM_001004416.3 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -3.93
Variant links:
Genes affected
UMODL1 (HGNC:12560): (uromodulin like 1) Predicted to be an extracellular matrix structural constituent. Predicted to be involved in neutrophil migration. Predicted to act upstream of or within several processes, including adipose tissue development; cellular response to gonadotropin-releasing hormone; and regulation of ovarian follicle development. Predicted to be located in cytoplasm and external side of plasma membrane. Predicted to be integral component of membrane. Predicted to be active in apical plasma membrane; cell surface; and extracellular space. [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 -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.98).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.383 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
UMODL1NM_001004416.3 linkc.320-1328G>A intron_variant Intron 2 of 22 ENST00000408910.7 NP_001004416.3 Q5DID0-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
UMODL1ENST00000408910.7 linkc.320-1328G>A intron_variant Intron 2 of 22 1 NM_001004416.3 ENSP00000386147.2 Q5DID0-1
UMODL1ENST00000408989.6 linkc.320-1328G>A intron_variant Intron 2 of 21 1 ENSP00000386126.2 Q5DID0-2
UMODL1ENST00000400427.5 linkc.104-1328G>A intron_variant Intron 2 of 21 1 ENSP00000383279.1 Q5DID0-4
UMODL1ENST00000400424.6 linkc.104-1328G>A intron_variant Intron 2 of 22 1 ENSP00000383276.1 Q5DID0-3

Frequencies

GnomAD3 genomes
AF:
0.303
AC:
46055
AN:
152046
Hom.:
8187
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.106
Gnomad AMI
AF:
0.440
Gnomad AMR
AF:
0.355
Gnomad ASJ
AF:
0.280
Gnomad EAS
AF:
0.350
Gnomad SAS
AF:
0.351
Gnomad FIN
AF:
0.411
Gnomad MID
AF:
0.231
Gnomad NFE
AF:
0.387
Gnomad OTH
AF:
0.302
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.303
AC:
46071
AN:
152164
Hom.:
8191
Cov.:
33
AF XY:
0.307
AC XY:
22843
AN XY:
74390
show subpopulations
Gnomad4 AFR
AF:
0.106
Gnomad4 AMR
AF:
0.356
Gnomad4 ASJ
AF:
0.280
Gnomad4 EAS
AF:
0.349
Gnomad4 SAS
AF:
0.351
Gnomad4 FIN
AF:
0.411
Gnomad4 NFE
AF:
0.387
Gnomad4 OTH
AF:
0.305
Alfa
AF:
0.351
Hom.:
9609
Bravo
AF:
0.291
Asia WGS
AF:
0.348
AC:
1212
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.98
CADD
Benign
0.059
DANN
Benign
0.65

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: rs8133951; hg19: chr21-43502866; API