rs1555930118
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The NM_024105.4(ALG12):c.367G>A(p.Gly123Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,780 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 12/21 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024105.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALG12 | NM_024105.4 | c.367G>A | p.Gly123Arg | missense_variant | Exon 4 of 10 | ENST00000330817.11 | NP_077010.1 | |
ALG12 | XM_017028936.2 | c.367G>A | p.Gly123Arg | missense_variant | Exon 4 of 10 | XP_016884425.1 | ||
ALG12 | XM_017028937.2 | c.367G>A | p.Gly123Arg | missense_variant | Exon 4 of 11 | XP_016884426.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461780Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727192
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
ALG12-congenital disorder of glycosylation Pathogenic:1
- -
not specified Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at