13-20796850-C-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_022459.5(XPO4):c.2530G>T(p.Val844Phe) variant causes a missense change. The variant allele was found at a frequency of 0.000039 in 1,614,064 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_022459.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000131 AC: 20AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249258Hom.: 0 AF XY: 0.0000444 AC XY: 6AN XY: 135248
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1461808Hom.: 0 Cov.: 31 AF XY: 0.0000371 AC XY: 27AN XY: 727204
GnomAD4 genome AF: 0.000131 AC: 20AN: 152256Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74442
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2530G>T (p.V844F) alteration is located in exon 17 (coding exon 17) of the XPO4 gene. This alteration results from a G to T substitution at nucleotide position 2530, causing the valine (V) at amino acid position 844 to be replaced by a phenylalanine (F). 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