chr12-105049919-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001034173.4(ALDH1L2):c.1675G>A(p.Asp559Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000373 in 1,609,772 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 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000605 AC: 15AN: 247986Hom.: 0 AF XY: 0.0000746 AC XY: 10AN XY: 134000
GnomAD4 exome AF: 0.0000370 AC: 54AN: 1457638Hom.: 0 Cov.: 30 AF XY: 0.0000455 AC XY: 33AN XY: 724960
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1675G>A (p.D559N) alteration is located in exon 13 (coding exon 13) of the ALDH1L2 gene. This alteration results from a G to A substitution at nucleotide position 1675, causing the aspartic acid (D) at amino acid position 559 to be replaced by an asparagine (N). 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