rs58433947
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The ENST00000412893.5(HMOX1):c.-240-69_-240-56del variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.158 in 363,976 control chromosomes in the GnomAD database, including 4,029 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.17 ( 2038 hom., cov: 0)
Exomes 𝑓: 0.15 ( 1991 hom. )
Consequence
HMOX1
ENST00000412893.5 intron
ENST00000412893.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.851
Genes affected
HMOX1 (HGNC:5013): (heme oxygenase 1) Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.267 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HMOX1 | ENST00000412893.5 | c.-240-69_-240-56del | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.171 AC: 23840AN: 139770Hom.: 2044 Cov.: 0
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GnomAD4 exome AF: 0.150 AC: 33594AN: 224092Hom.: 1991 AF XY: 0.156 AC XY: 18410AN XY: 118076
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GnomAD4 genome ? AF: 0.170 AC: 23828AN: 139884Hom.: 2038 Cov.: 0 AF XY: 0.170 AC XY: 11526AN XY: 67898
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at