rs2304722
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005576.4(LOXL1):c.1603-51T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.19 in 1,069,342 control chromosomes in the GnomAD database, including 20,465 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 0.18 ( 2668 hom., cov: 32)
Exomes 𝑓: 0.19 ( 17797 hom. )
Consequence
LOXL1
NM_005576.4 intron
NM_005576.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.84
Genes affected
LOXL1 (HGNC:6665): (lysyl oxidase like 1) This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]
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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=-0.89).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.335 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOXL1 | NM_005576.4 | c.1603-51T>C | intron_variant | ENST00000261921.8 | |||
LOXL1 | XM_017022179.2 | c.556-51T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LOXL1 | ENST00000261921.8 | c.1603-51T>C | intron_variant | 1 | NM_005576.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.181 AC: 27464AN: 152030Hom.: 2666 Cov.: 32
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GnomAD3 exomes AF: 0.202 AC: 50611AN: 250046Hom.: 5510 AF XY: 0.204 AC XY: 27490AN XY: 135070
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GnomAD4 exome AF: 0.192 AC: 176219AN: 917194Hom.: 17797 Cov.: 13 AF XY: 0.193 AC XY: 92479AN XY: 478418
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GnomAD4 genome ? AF: 0.181 AC: 27478AN: 152148Hom.: 2668 Cov.: 32 AF XY: 0.184 AC XY: 13699AN XY: 74394
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at