NM_001382293.1:c.94G>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001382293.1(LAMTOR5):c.94G>A(p.Gly32Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000375 in 1,600,694 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001382293.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LAMTOR5 | NM_001382293.1 | c.94G>A | p.Gly32Ser | missense_variant | Exon 2 of 4 | ENST00000602318.6 | NP_001369222.1 | |
LAMTOR5 | NM_006402.3 | c.340G>A | p.Gly114Ser | missense_variant | Exon 2 of 4 | NP_006393.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000820 AC: 2AN: 243944Hom.: 0 AF XY: 0.00000758 AC XY: 1AN XY: 132004
GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1448606Hom.: 0 Cov.: 27 AF XY: 0.00000139 AC XY: 1AN XY: 720884
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.340G>A (p.G114S) alteration is located in exon 2 (coding exon 2) of the LAMTOR5 gene. This alteration results from a G to A substitution at nucleotide position 340, causing the glycine (G) at amino acid position 114 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at