12-105034346-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001034173.4(ALDH1L2):c.2198G>A(p.Arg733Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000465 in 1,613,462 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001034173.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALDH1L2 | NM_001034173.4 | c.2198G>A | p.Arg733Gln | missense_variant | Exon 19 of 23 | ENST00000258494.14 | NP_001029345.2 | |
ALDH1L2 | XM_047428406.1 | c.1859G>A | p.Arg620Gln | missense_variant | Exon 19 of 23 | XP_047284362.1 | ||
ALDH1L2 | XM_047428407.1 | c.1760G>A | p.Arg587Gln | missense_variant | Exon 18 of 22 | XP_047284363.1 | ||
ALDH1L2 | NR_027752.2 | n.2216G>A | non_coding_transcript_exon_variant | Exon 19 of 23 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000223 AC: 34AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 26AN: 250482Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135420
GnomAD4 exome AF: 0.0000281 AC: 41AN: 1461202Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 726906
GnomAD4 genome AF: 0.000223 AC: 34AN: 152260Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2198G>A (p.R733Q) alteration is located in exon 19 (coding exon 19) of the ALDH1L2 gene. This alteration results from a G to A substitution at nucleotide position 2198, causing the arginine (R) at amino acid position 733 to be replaced by a glutamine (Q). 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