chr3-184248927-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005787.6(ALG3):āc.14T>Gā(p.Leu5Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000021 in 1,431,554 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005787.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALG3 | NM_005787.6 | c.14T>G | p.Leu5Arg | missense_variant | 1/9 | ENST00000397676.8 | NP_005778.1 | |
ALG3 | NM_001006941.2 | c.52+299T>G | intron_variant | NP_001006942.1 | ||||
ALG3 | NR_024533.1 | n.45T>G | non_coding_transcript_exon_variant | 1/8 | ||||
ALG3 | NR_024534.1 | n.45T>G | non_coding_transcript_exon_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ALG3 | ENST00000397676.8 | c.14T>G | p.Leu5Arg | missense_variant | 1/9 | 1 | NM_005787.6 | ENSP00000380793.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000506 AC: 1AN: 197636Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 109664
GnomAD4 exome AF: 0.00000210 AC: 3AN: 1431554Hom.: 0 Cov.: 34 AF XY: 0.00000141 AC XY: 1AN XY: 709350
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at