13-23320654-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The NM_000231.3(SGCG):c.596G>T(p.Arg199Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000139 in 1,434,806 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_000231.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SGCG | ENST00000218867.4 | c.596G>T | p.Arg199Leu | missense_variant | Exon 7 of 8 | 1 | NM_000231.3 | ENSP00000218867.3 | ||
SACS | ENST00000682775.1 | c.2186-8539C>A | intron_variant | Intron 9 of 9 | ENSP00000508399.1 | |||||
SACS | ENST00000683210.1 | c.2186-31411C>A | intron_variant | Intron 9 of 9 | ENSP00000506739.1 | |||||
SACS | ENST00000684325.1 | n.*104+912C>A | intron_variant | Intron 10 of 10 | ENSP00000508121.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000139 AC: 2AN: 1434806Hom.: 0 Cov.: 33 AF XY: 0.00000281 AC XY: 2AN XY: 712308
GnomAD4 genome Cov.: 31
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.