Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PM2_SupportingBP4_Moderate
The NM_002968.3(SALL1):c.3847G>A(p.Glu1283Lys) variant causes a missense change. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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Verdict is Likely_benign. Variant got -1 ACMG points.
GnomAD3 genomesCov.: 31
Submissions by phenotype
Townes-Brocks syndrome 1
|Uncertain significance, criteria provided, single submitter
|Johns Hopkins Genomics, Johns Hopkins University
|Mar 31, 2020
|This SALL1 variant is absent from a large population dataset and has not been reported in the literature, to our knowledge. Of three bioinformatics tools queried, two predicts that the substitution would be damaging while one predicts that it would be neutral. The glutamic acid residue at this position is evolutionarily conserved across higher order species, but not in fish and is not predicted to impact canonical exon 3 splicing. Due to lack of segregation and functional data, we consider the clinical significance of c.3847G>A to be uncertain at this time. -
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