rs781794652
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001278116.2(L1CAM):āc.1899G>Cā(p.Val633=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000182 in 1,096,950 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ). Synonymous variant affecting the same amino acid position (i.e. V633V) has been classified as Likely benign.
Frequency
Consequence
NM_001278116.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
L1CAM | NM_001278116.2 | c.1899G>C | p.Val633= | synonymous_variant | 16/29 | ENST00000370060.7 | |
L1CAM | NM_000425.5 | c.1899G>C | p.Val633= | synonymous_variant | 15/28 | ||
L1CAM | NM_024003.3 | c.1899G>C | p.Val633= | synonymous_variant | 15/27 | ||
L1CAM | NM_001143963.2 | c.1884G>C | p.Val628= | synonymous_variant | 14/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
L1CAM | ENST00000370060.7 | c.1899G>C | p.Val633= | synonymous_variant | 16/29 | 5 | NM_001278116.2 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD3 exomes AF: 0.00000555 AC: 1AN: 180092Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 66926
GnomAD4 exome AF: 0.00000182 AC: 2AN: 1096950Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 362878
GnomAD4 genome ? Cov.: 23
ClinVar
Submissions by phenotype
Spastic paraplegia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Apr 20, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at