19-47781353-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003009.4(SELENOW):c.247G>A(p.Ala83Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000492 in 1,604,082 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003009.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000256 AC: 39AN: 152140Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000656 AC: 15AN: 228632Hom.: 0 AF XY: 0.0000403 AC XY: 5AN XY: 124188
GnomAD4 exome AF: 0.0000275 AC: 40AN: 1451942Hom.: 0 Cov.: 31 AF XY: 0.0000263 AC XY: 19AN XY: 721654
GnomAD4 genome AF: 0.000256 AC: 39AN: 152140Hom.: 0 Cov.: 31 AF XY: 0.000188 AC XY: 14AN XY: 74302
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.247G>A (p.A83T) alteration is located in exon 5 (coding exon 5) of the SEPW1 gene. This alteration results from a G to A substitution at nucleotide position 247, causing the alanine (A) at amino acid position 83 to be replaced by a threonine (T). 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