chr13-97985663-C-CT
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_002271.6(IPO5):c.364+64dup variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0022 ( 2 hom., cov: 0)
Exomes 𝑓: 0.031 ( 0 hom. )
Consequence
IPO5
NM_002271.6 intron
NM_002271.6 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.76
Genes affected
IPO5 (HGNC:6402): (importin 5) Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
GnomAdExome4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.0615 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IPO5 | NM_002271.6 | c.364+64dup | intron_variant | ENST00000651721.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IPO5 | ENST00000651721.2 | c.364+64dup | intron_variant | NM_002271.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00223 AC: 325AN: 145810Hom.: 2 Cov.: 0
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GnomAD3 exomes AF: 0.0232 AC: 3019AN: 130350Hom.: 0 AF XY: 0.0219 AC XY: 1557AN XY: 71246
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GnomAD4 exome AF: 0.0310 AC: 24060AN: 775806Hom.: 0 Cov.: 0 AF XY: 0.0308 AC XY: 12413AN XY: 403396
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GnomAD4 genome AF: 0.00222 AC: 324AN: 145864Hom.: 2 Cov.: 0 AF XY: 0.00232 AC XY: 164AN XY: 70764
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ClinVar
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at