rs781860875
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBP6
The NM_001278116.2(L1CAM):c.3412C>G(p.Leu1138Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000455 in 1,098,038 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. L1138L) has been classified as Likely benign.
Frequency
Consequence
NM_001278116.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
L1CAM | NM_001278116.2 | c.3412C>G | p.Leu1138Val | missense_variant | 26/29 | ENST00000370060.7 | |
L1CAM | NM_000425.5 | c.3412C>G | p.Leu1138Val | missense_variant | 25/28 | ||
L1CAM | NM_024003.3 | c.3412C>G | p.Leu1138Val | missense_variant | 25/27 | ||
L1CAM | NM_001143963.2 | c.3397C>G | p.Leu1133Val | missense_variant | 24/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
L1CAM | ENST00000370060.7 | c.3412C>G | p.Leu1138Val | missense_variant | 26/29 | 5 | NM_001278116.2 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 25
GnomAD3 exomes AF: 0.00000547 AC: 1AN: 182878Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67466
GnomAD4 exome AF: 0.00000455 AC: 5AN: 1098038Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 2AN XY: 363410
GnomAD4 genome ? Cov.: 25
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Oct 12, 2016 | - - |
Spastic paraplegia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 28, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at