chr7-66086599-T-C
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PP3_StrongPP5_Moderate
The NM_000048.4(ASL):āc.461T>Cā(p.Leu154Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,588 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 Pathogenic (ā ). Synonymous variant affecting the same amino acid position (i.e. L154L) has been classified as Likely benign.
Frequency
Consequence
NM_000048.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASL | NM_000048.4 | c.461T>C | p.Leu154Pro | missense_variant | 7/17 | ENST00000304874.14 | |
ASL | NM_001024943.2 | c.461T>C | p.Leu154Pro | missense_variant | 6/16 | ||
ASL | NM_001024944.2 | c.461T>C | p.Leu154Pro | missense_variant | 6/15 | ||
ASL | NM_001024946.2 | c.461T>C | p.Leu154Pro | missense_variant | 6/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASL | ENST00000304874.14 | c.461T>C | p.Leu154Pro | missense_variant | 7/17 | 1 | NM_000048.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461588Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727096
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Argininosuccinate lyase deficiency Pathogenic:1
Pathogenic, criteria provided, single submitter | literature only | SNPedia | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at