X-153866869-C-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_001278116.2(L1CAM):c.2211G>A(p.Pro737=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000962 in 1,205,873 control chromosomes in the GnomAD database, including 4 homozygotes. There are 542 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001278116.2 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
L1CAM | NM_001278116.2 | c.2211G>A | p.Pro737= | splice_region_variant, synonymous_variant | 19/29 | ENST00000370060.7 | NP_001265045.1 | |
L1CAM | NM_000425.5 | c.2211G>A | p.Pro737= | splice_region_variant, synonymous_variant | 18/28 | NP_000416.1 | ||
L1CAM | NM_024003.3 | c.2211G>A | p.Pro737= | splice_region_variant, synonymous_variant | 18/27 | NP_076493.1 | ||
L1CAM | NM_001143963.2 | c.2196G>A | p.Pro732= | splice_region_variant, synonymous_variant | 17/26 | NP_001137435.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
L1CAM | ENST00000370060.7 | c.2211G>A | p.Pro737= | splice_region_variant, synonymous_variant | 19/29 | 5 | NM_001278116.2 | ENSP00000359077 | A1 |
Frequencies
GnomAD3 genomes AF: 0.000573 AC: 64AN: 111722Hom.: 0 Cov.: 22 AF XY: 0.000501 AC XY: 17AN XY: 33902
GnomAD3 exomes AF: 0.00171 AC: 306AN: 179429Hom.: 1 AF XY: 0.00256 AC XY: 167AN XY: 65153
GnomAD4 exome AF: 0.00100 AC: 1097AN: 1094098Hom.: 4 Cov.: 31 AF XY: 0.00146 AC XY: 525AN XY: 359766
GnomAD4 genome AF: 0.000564 AC: 63AN: 111775Hom.: 0 Cov.: 22 AF XY: 0.000501 AC XY: 17AN XY: 33965
ClinVar
Submissions by phenotype
not specified Benign:3
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | May 04, 2015 | - - |
Benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Mar 01, 2016 | - - |
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 10, 2018 | - - |
Likely benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
Spastic paraplegia Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 25, 2024 | - - |
Inborn genetic diseases Benign:1
Benign, criteria provided, single submitter | clinical testing | Ambry Genetics | May 28, 2017 | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Hereditary spastic paraplegia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genome Diagnostics Laboratory, The Hospital for Sick Children | Dec 12, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at