9-130494984-G-C
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_054012.4(ASS1):āc.1088G>Cā(p.Arg363Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,884 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R363L) has been classified as Likely pathogenic.
Frequency
Consequence
NM_054012.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASS1 | ENST00000352480.10 | c.1088G>C | p.Arg363Pro | missense_variant | Exon 13 of 15 | 1 | NM_054012.4 | ENSP00000253004.6 | ||
ASS1 | ENST00000372393.7 | c.1088G>C | p.Arg363Pro | missense_variant | Exon 14 of 16 | 5 | ENSP00000361469.2 | |||
ASS1 | ENST00000372394.5 | c.1088G>C | p.Arg363Pro | missense_variant | Exon 14 of 16 | 2 | ENSP00000361471.1 | |||
ASS1 | ENST00000372386.6 | n.359G>C | non_coding_transcript_exon_variant | Exon 4 of 6 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460884Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726748
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.