rs1533519
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001320973.2(BLZF1):c.1017+473G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0559 in 152,186 control chromosomes in the GnomAD database, including 1,391 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 0.056 ( 1391 hom., cov: 32)
Consequence
BLZF1
NM_001320973.2 intron
NM_001320973.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.204
Genes affected
BLZF1 (HGNC:1065): (basic leucine zipper nuclear factor 1) Enables ubiquitin protein ligase binding activity. Acts upstream of or within Golgi organization and Golgi to plasma membrane protein transport. Located in Golgi apparatus and nucleoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.646 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BLZF1 | NM_001320973.2 | c.1017+473G>A | intron_variant | ENST00000367808.8 | |||
BLZF1 | NM_003666.4 | c.1017+473G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BLZF1 | ENST00000367808.8 | c.1017+473G>A | intron_variant | 1 | NM_001320973.2 | P1 | |||
BLZF1 | ENST00000329281.6 | c.1017+473G>A | intron_variant | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0559 AC: 8498AN: 152068Hom.: 1387 Cov.: 32
GnomAD3 genomes
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152068
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0559 AC: 8513AN: 152186Hom.: 1391 Cov.: 32 AF XY: 0.0648 AC XY: 4821AN XY: 74402
GnomAD4 genome
?
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8513
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152186
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32
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4821
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74402
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Asia WGS
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1259
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at