rs10062297
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173800.5(LVRN):āc.64C>Gā(p.Leu22Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,990 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_173800.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LVRN | NM_173800.5 | c.64C>G | p.Leu22Val | missense_variant | 1/20 | ENST00000357872.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LVRN | ENST00000357872.9 | c.64C>G | p.Leu22Val | missense_variant | 1/20 | 1 | NM_173800.5 | P1 | |
LVRN | ENST00000504467.5 | c.64C>G | p.Leu22Val | missense_variant, NMD_transcript_variant | 1/20 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 152000Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457990Hom.: 0 Cov.: 87 AF XY: 0.00 AC XY: 0AN XY: 725310
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152000Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74222
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at