rs745313876
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_031206.7(LAS1L):c.937G>A(p.Gly313Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000693 in 1,197,312 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 29 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031206.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LAS1L | NM_031206.7 | c.937G>A | p.Gly313Ser | missense_variant | 7/14 | ENST00000374811.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LAS1L | ENST00000374811.8 | c.937G>A | p.Gly313Ser | missense_variant | 7/14 | 1 | NM_031206.7 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000533 AC: 6AN: 112505Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34665
GnomAD3 exomes AF: 0.0000297 AC: 5AN: 168168Hom.: 0 AF XY: 0.0000545 AC XY: 3AN XY: 55078
GnomAD4 exome AF: 0.0000710 AC: 77AN: 1084807Hom.: 0 Cov.: 27 AF XY: 0.0000824 AC XY: 29AN XY: 351819
GnomAD4 genome AF: 0.0000533 AC: 6AN: 112505Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34665
ClinVar
Submissions by phenotype
Wilson-Turner syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 24, 2023 | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LAS1L protein function. ClinVar contains an entry for this variant (Variation ID: 579081). This variant has not been reported in the literature in individuals affected with LAS1L-related conditions. This variant is present in population databases (rs745313876, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 313 of the LAS1L protein (p.Gly313Ser). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at