rs13329473
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005576.4(LOXL1):c.1467C>G(p.Phe489Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,284 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. F489F) has been classified as Benign.
Frequency
Consequence
NM_005576.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOXL1 | NM_005576.4 | c.1467C>G | p.Phe489Leu | missense_variant | 4/7 | ENST00000261921.8 | |
LOXL1 | XM_017022179.2 | c.420C>G | p.Phe140Leu | missense_variant | 4/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LOXL1 | ENST00000261921.8 | c.1467C>G | p.Phe489Leu | missense_variant | 4/7 | 1 | NM_005576.4 | P1 | |
LOXL1 | ENST00000566530.1 | n.305C>G | non_coding_transcript_exon_variant | 2/4 | 3 | ||||
LOXL1 | ENST00000566011.5 | c.*355C>G | 3_prime_UTR_variant, NMD_transcript_variant | 5/8 | 5 | ||||
LOXL1 | ENST00000562548.1 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152284Hom.: 0 Cov.: 34
GnomAD4 exome Cov.: 31
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152284Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74400
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at