rs782367931
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001278116.2(L1CAM):āc.1546G>Cā(p.Asp516His) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 3/3 splice prediction tools predicting alterations to normal splicing. 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. D516N) has been classified as Uncertain significance.
Frequency
Consequence
NM_001278116.2 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
L1CAM | NM_001278116.2 | c.1546G>C | p.Asp516His | missense_variant, splice_region_variant | 13/29 | ENST00000370060.7 | |
L1CAM | NM_000425.5 | c.1546G>C | p.Asp516His | missense_variant, splice_region_variant | 12/28 | ||
L1CAM | NM_024003.3 | c.1546G>C | p.Asp516His | missense_variant, splice_region_variant | 12/27 | ||
L1CAM | NM_001143963.2 | c.1531G>C | p.Asp511His | missense_variant, splice_region_variant | 11/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
L1CAM | ENST00000370060.7 | c.1546G>C | p.Asp516His | missense_variant, splice_region_variant | 13/29 | 5 | NM_001278116.2 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 24
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1098197Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 363559
GnomAD4 genome ? Cov.: 24
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at