rs141046612
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PM1PM2BP4_ModerateBP6_Moderate
The NM_000048.4(ASL):āc.242T>Cā(p.Leu81Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000874 in 1,612,528 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ). Synonymous variant affecting the same amino acid position (i.e. L81L) has been classified as Likely benign.
Frequency
Consequence
NM_000048.4 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 | UniProt |
---|---|---|---|---|---|---|---|
ASL | NM_000048.4 | c.242T>C | p.Leu81Pro | missense_variant | 4/17 | ENST00000304874.14 | |
ASL | NM_001024943.2 | c.242T>C | p.Leu81Pro | missense_variant | 3/16 | ||
ASL | NM_001024944.2 | c.242T>C | p.Leu81Pro | missense_variant | 3/15 | ||
ASL | NM_001024946.2 | c.242T>C | p.Leu81Pro | missense_variant | 3/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASL | ENST00000304874.14 | c.242T>C | p.Leu81Pro | missense_variant | 4/17 | 1 | NM_000048.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000559 AC: 85AN: 152032Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000170 AC: 42AN: 247000Hom.: 0 AF XY: 0.0000823 AC XY: 11AN XY: 133720
GnomAD4 exome AF: 0.0000377 AC: 55AN: 1460378Hom.: 0 Cov.: 32 AF XY: 0.0000330 AC XY: 24AN XY: 726322
GnomAD4 genome ? AF: 0.000565 AC: 86AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.000605 AC XY: 45AN XY: 74406
ClinVar
Submissions by phenotype
Argininosuccinate lyase deficiency Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at