2-159248402-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001128212.3(WDSUB1):c.1243G>A(p.Glu415Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000589 in 1,611,670 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001128212.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248890Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134626
GnomAD4 exome AF: 0.0000603 AC: 88AN: 1459548Hom.: 0 Cov.: 30 AF XY: 0.0000757 AC XY: 55AN XY: 726118
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1243G>A (p.E415K) alteration is located in exon 10 (coding exon 9) of the WDSUB1 gene. This alteration results from a G to A substitution at nucleotide position 1243, causing the glutamic acid (E) at amino acid position 415 to be replaced by a lysine (K). 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