13-20796172-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_022459.5(XPO4):c.2701G>A(p.Val901Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000893 in 1,613,324 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022459.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000132 AC: 20AN: 151730Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000136 AC: 34AN: 249384Hom.: 0 AF XY: 0.000140 AC XY: 19AN XY: 135316
GnomAD4 exome AF: 0.0000848 AC: 124AN: 1461594Hom.: 0 Cov.: 30 AF XY: 0.0000825 AC XY: 60AN XY: 727086
GnomAD4 genome AF: 0.000132 AC: 20AN: 151730Hom.: 0 Cov.: 32 AF XY: 0.000189 AC XY: 14AN XY: 74042
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2701G>A (p.V901I) alteration is located in exon 18 (coding exon 18) of the XPO4 gene. This alteration results from a G to A substitution at nucleotide position 2701, causing the valine (V) at amino acid position 901 to be replaced by an isoleucine (I). 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