rs80338713
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000047.3(ARSL):c.1442C>T(p.Thr481Met) variant causes a missense change. The variant allele was found at a frequency of 0.00000182 in 1,097,776 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as not provided (no stars). Synonymous variant affecting the same amino acid position (i.e. T481T) has been classified as Likely benign.
Frequency
Consequence
NM_000047.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARSL | NM_000047.3 | c.1442C>T | p.Thr481Met | missense_variant | 11/11 | ENST00000381134.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARSL | ENST00000381134.9 | c.1442C>T | p.Thr481Met | missense_variant | 11/11 | 1 | NM_000047.3 | P4 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.0000110 AC: 2AN: 181620Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 66312
GnomAD4 exome AF: 0.00000182 AC: 2AN: 1097776Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 363146
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
X-linked chondrodysplasia punctata 1 Other:1
not provided, no classification provided | literature only | GeneReviews | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at