X-143629455-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001184749.3(SLITRK4):c.1654G>T(p.Gly552Trp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. G552R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001184749.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLITRK4 | ENST00000356928.2 | c.1654G>T | p.Gly552Trp | missense_variant | Exon 2 of 2 | 2 | NM_001184749.3 | ENSP00000349400.1 | ||
SLITRK4 | ENST00000338017.8 | c.1654G>T | p.Gly552Trp | missense_variant | Exon 2 of 2 | 1 | ENSP00000336627.4 | |||
SLITRK4 | ENST00000596188.2 | c.1654G>T | p.Gly552Trp | missense_variant | Exon 2 of 2 | 1 | ENSP00000469205.1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at