chr4-76896267-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001029870.3(SOWAHB):c.1583G>T(p.Arg528Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000413 in 1,452,076 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001029870.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000767 AC: 19AN: 247764Hom.: 0 AF XY: 0.0000968 AC XY: 13AN XY: 134236
GnomAD4 exome AF: 0.0000413 AC: 60AN: 1452076Hom.: 1 Cov.: 33 AF XY: 0.0000541 AC XY: 39AN XY: 720914
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1583G>T (p.R528L) alteration is located in exon 1 (coding exon 1) of the SOWAHB gene. This alteration results from a G to T substitution at nucleotide position 1583, causing the arginine (R) at amino acid position 528 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