7-66088873-T-G
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The NM_000048.4(ASL):āc.785T>Gā(p.Leu262Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,806 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000048.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASL | NM_000048.4 | c.785T>G | p.Leu262Arg | missense_variant | Exon 11 of 17 | ENST00000304874.14 | NP_000039.2 | |
ASL | NM_001024943.2 | c.785T>G | p.Leu262Arg | missense_variant | Exon 10 of 16 | NP_001020114.1 | ||
ASL | NM_001024944.2 | c.785T>G | p.Leu262Arg | missense_variant | Exon 10 of 15 | NP_001020115.1 | ||
ASL | NM_001024946.2 | c.707T>G | p.Leu236Arg | missense_variant | Exon 9 of 15 | NP_001020117.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASL | ENST00000304874.14 | c.785T>G | p.Leu262Arg | missense_variant | Exon 11 of 17 | 1 | NM_000048.4 | ENSP00000307188.9 | ||
ENSG00000249319 | ENST00000450043.2 | c.98T>G | p.Leu33Arg | missense_variant | Exon 2 of 12 | 5 | ENSP00000396527.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461806Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727190
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.