rs12520255
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173800.5(LVRN):c.161T>A(p.Leu54Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,458,834 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_173800.5 stop_gained
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 |
---|---|---|---|---|---|---|---|
LVRN | NM_173800.5 | c.161T>A | p.Leu54Ter | stop_gained | 1/20 | ENST00000357872.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LVRN | ENST00000357872.9 | c.161T>A | p.Leu54Ter | stop_gained | 1/20 | 1 | NM_173800.5 | P1 | |
LVRN | ENST00000504467.5 | c.161T>A | p.Leu54Ter | stop_gained, NMD_transcript_variant | 1/20 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1458834Hom.: 0 Cov.: 96 AF XY: 0.00000138 AC XY: 1AN XY: 725362
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at