3-42406979-G-A

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

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.204
Variant links:
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]

Genome browser will be placed here

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
LYZL4NM_144634.4 linkuse as main transcriptc.159C>T p.Phe53= synonymous_variant 3/5 ENST00000287748.8
LYZL4NM_001304386.2 linkuse as main transcriptc.159C>T p.Phe53= synonymous_variant 3/5
LYZL4XM_011533355.4 linkuse as main transcriptc.159C>T p.Phe53= synonymous_variant 3/5

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
LYZL4ENST00000287748.8 linkuse as main transcriptc.159C>T p.Phe53= synonymous_variant 3/51 NM_144634.4 P1
LYZL4ENST00000441172.1 linkuse as main transcriptc.159C>T p.Phe53= synonymous_variant 3/55 P1
LYZL4ENST00000470991.1 linkuse as main transcriptn.189C>T non_coding_transcript_exon_variant 3/53

Frequencies

GnomAD3 genomes
AF:
0.0813
AC:
12371
AN:
152084
Hom.:
748
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.0219
Gnomad AMI
AF:
0.127
Gnomad AMR
AF:
0.0624
Gnomad ASJ
AF:
0.0363
Gnomad EAS
AF:
0.294
Gnomad SAS
AF:
0.126
Gnomad FIN
AF:
0.129
Gnomad MID
AF:
0.0538
Gnomad NFE
AF:
0.0973
Gnomad OTH
AF:
0.0656
GnomAD3 exomes
AF:
0.103
AC:
25876
AN:
251382
Hom.:
1890
AF XY:
0.106
AC XY:
14417
AN XY:
135864
show subpopulations
Gnomad AFR exome
AF:
0.0202
Gnomad AMR exome
AF:
0.0553
Gnomad ASJ exome
AF:
0.0377
Gnomad EAS exome
AF:
0.292
Gnomad SAS exome
AF:
0.127
Gnomad FIN exome
AF:
0.122
Gnomad NFE exome
AF:
0.0951
Gnomad OTH exome
AF:
0.0867
GnomAD4 exome
AF:
0.105
AC:
153407
AN:
1461850
Hom.:
9433
Cov.:
35
AF XY:
0.106
AC XY:
76840
AN XY:
727234
show subpopulations
Gnomad4 AFR exome
AF:
0.0180
Gnomad4 AMR exome
AF:
0.0535
Gnomad4 ASJ exome
AF:
0.0372
Gnomad4 EAS exome
AF:
0.295
Gnomad4 SAS exome
AF:
0.130
Gnomad4 FIN exome
AF:
0.122
Gnomad4 NFE exome
AF:
0.102
Gnomad4 OTH exome
AF:
0.103
GnomAD4 genome
AF:
0.0813
AC:
12370
AN:
152202
Hom.:
748
Cov.:
31
AF XY:
0.0861
AC XY:
6402
AN XY:
74388
show subpopulations
Gnomad4 AFR
AF:
0.0218
Gnomad4 AMR
AF:
0.0626
Gnomad4 ASJ
AF:
0.0363
Gnomad4 EAS
AF:
0.294
Gnomad4 SAS
AF:
0.125
Gnomad4 FIN
AF:
0.129
Gnomad4 NFE
AF:
0.0973
Gnomad4 OTH
AF:
0.0663
Alfa
AF:
0.0945
Hom.:
1564
Bravo
AF:
0.0734
Asia WGS
AF:
0.197
AC:
685
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.53
CADD
Benign
7.5
DANN
Benign
0.73

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs2286720; hg19: chr3-42448471; COSMIC: COSV55104821; API