18-78992145-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_171999.4(SALL3):c.154G>T(p.Val52Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000206 in 1,455,018 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_171999.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SALL3 | NM_171999.4 | c.154G>T | p.Val52Leu | missense_variant | Exon 2 of 3 | ENST00000537592.7 | NP_741996.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000846 AC: 2AN: 236386Hom.: 0 AF XY: 0.00000775 AC XY: 1AN XY: 129022
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1455018Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 2AN XY: 723568
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.154G>T (p.V52L) alteration is located in exon 2 (coding exon 2) of the SALL3 gene. This alteration results from a G to T substitution at nucleotide position 154, causing the valine (V) at amino acid position 52 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at