rs13333226
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000570689.5(UMOD):c.-40+1862T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.231 in 151,980 control chromosomes in the GnomAD database, including 4,388 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as association (no stars).
Frequency
Consequence
ENST00000570689.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UMOD | XM_011545938.1 | c.-40+1862T>C | intron_variant | Intron 1 of 11 | XP_011544240.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.231 AC: 35047AN: 151860Hom.: 4377 Cov.: 32
GnomAD4 genome AF: 0.231 AC: 35090AN: 151980Hom.: 4388 Cov.: 32 AF XY: 0.234 AC XY: 17361AN XY: 74290
ClinVar
Submissions by phenotype
Essential hypertension Other:1
A case-control association study with enrolling individuals belonging to Arab ancestry from Babylon province, Iraq. The study enrolled 100 cases of well diagnosed essential hypertensive patients and 70 controls of carefully selected normotensive individuals. For genotyping, we designed and optimized ‘polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP)’ and ‘polymerase chain reaction amplification of multiple specific alleles (PAMSA)’ methods, and each sample was genotyped by the two methods to ensure precise genotyping. Concerning UMOD rs13333226, the results showed that allele A conferred an additional risk for essential hypertension with odds ratio 1.75 (C.I.1.03-2.96) (P =0.035), while the G allele represents a protective allele conferring a lesser susceptibility for hypertension (OR = 0.57, C.I. 0.33-0.96). The genotypic association under different inheritance models showed that the A allele was inherited as a recessive risk allele, the GG+AG to AA odd ratio equal to 2.17 (C.I. 1.14-4.11)( P = 0.022). When the association was tested in each gender, the association and odds ratio increased further in the males, in which the A allele recorded with an odds ratio of 3.28 (C.I. 1.43-7.50 ) and P value of 0.0035, while the females did not record any significant association. We concluded that the rs13333226 variant of the UMOD gene represents a genetic factor that can modulate the susceptibility to develop essential hypertension in males from Arab ancestry of Babylon province. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at