rs2286720
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Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_144634.4(LYZL4):c.159C>T(p.Phe53=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.103 in 1,614,052 control chromosomes in the GnomAD database, including 10,181 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 0.081 ( 748 hom., cov: 31)
Exomes 𝑓: 0.10 ( 9433 hom. )
Consequence
LYZL4
NM_144634.4 synonymous
NM_144634.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.204
Genes affected
LYZL4 (HGNC:28387): (lysozyme like 4) Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL4 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -13 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.53).
BP7
?
Synonymous conserved (PhyloP=-0.204 with no splicing effect.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.282 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LYZL4 | NM_144634.4 | c.159C>T | p.Phe53= | synonymous_variant | 3/5 | ENST00000287748.8 | |
LYZL4 | NM_001304386.2 | c.159C>T | p.Phe53= | synonymous_variant | 3/5 | ||
LYZL4 | XM_011533355.4 | c.159C>T | p.Phe53= | synonymous_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LYZL4 | ENST00000287748.8 | c.159C>T | p.Phe53= | synonymous_variant | 3/5 | 1 | NM_144634.4 | P1 | |
LYZL4 | ENST00000441172.1 | c.159C>T | p.Phe53= | synonymous_variant | 3/5 | 5 | P1 | ||
LYZL4 | ENST00000470991.1 | n.189C>T | non_coding_transcript_exon_variant | 3/5 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0813 AC: 12371AN: 152084Hom.: 748 Cov.: 31
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GnomAD3 exomes AF: 0.103 AC: 25876AN: 251382Hom.: 1890 AF XY: 0.106 AC XY: 14417AN XY: 135864
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GnomAD4 exome AF: 0.105 AC: 153407AN: 1461850Hom.: 9433 Cov.: 35 AF XY: 0.106 AC XY: 76840AN XY: 727234
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GnomAD4 genome ? AF: 0.0813 AC: 12370AN: 152202Hom.: 748 Cov.: 31 AF XY: 0.0861 AC XY: 6402AN XY: 74388
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
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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