rs781908326
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001278116.2(L1CAM):c.338G>T(p.Arg113Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R113H) has been classified as Likely benign.
Frequency
Consequence
NM_001278116.2 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 |
---|---|---|---|---|---|---|---|
L1CAM | NM_001278116.2 | c.338G>T | p.Arg113Leu | missense_variant | 5/29 | ENST00000370060.7 | |
L1CAM | NM_000425.5 | c.338G>T | p.Arg113Leu | missense_variant | 4/28 | ||
L1CAM | NM_024003.3 | c.338G>T | p.Arg113Leu | missense_variant | 4/27 | ||
L1CAM | NM_001143963.2 | c.323G>T | p.Arg108Leu | missense_variant | 3/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
L1CAM | ENST00000370060.7 | c.338G>T | p.Arg113Leu | missense_variant | 5/29 | 5 | NM_001278116.2 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 21
GnomAD3 exomes AF: 0.00000545 AC: 1AN: 183388Hom.: 0 AF XY: 0.0000147 AC XY: 1AN XY: 67838
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 9.11e-7 AC: 1AN: 1097343Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 1AN XY: 362719
GnomAD4 genome ? Cov.: 21
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at