6-43551437-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020750.3(XPO5):c.1589A>T(p.Asp530Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,412 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D530G) has been classified as Likely benign.
Frequency
Consequence
NM_020750.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
XPO5 | NM_020750.3 | c.1589A>T | p.Asp530Val | missense_variant | Exon 15 of 32 | ENST00000265351.12 | NP_065801.1 | |
POLR1C | NM_001363658.2 | c.*42+426T>A | intron_variant | Intron 9 of 9 | NP_001350587.1 | |||
XPO5 | NR_144392.2 | n.1763A>T | non_coding_transcript_exon_variant | Exon 15 of 33 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460412Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726414
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.