11-119085172-CTTTTTTTTTTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_000190.4(HMBS):c.33+117_33+135dupTTTTTTTTTTTTTTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000030 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000041 ( 2 hom. )
Consequence
HMBS
NM_000190.4 intron
NM_000190.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.497
Genes affected
HMBS (HGNC:4982): (hydroxymethylbilane synthase) This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
High Homozygotes in GnomAdExome4 at 2 SD gene
Transcripts
RefSeq
Ensembl
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GnomAD3 genomes AF: 0.0000300 AC: 2AN: 66768Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.0000409 AC: 30AN: 732832Hom.: 2 Cov.: 0 AF XY: 0.0000497 AC XY: 18AN XY: 362476
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GnomAD4 genome AF: 0.0000300 AC: 2AN: 66768Hom.: 0 Cov.: 0 AF XY: 0.0000339 AC XY: 1AN XY: 29496
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ClinVar
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at