12-30630873-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006390.4(IPO8):āc.3101C>Gā(p.Pro1034Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,612,518 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 (ā ).
Frequency
Consequence
NM_006390.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IPO8 | NM_006390.4 | c.3101C>G | p.Pro1034Arg | missense_variant | Exon 25 of 25 | ENST00000256079.9 | NP_006381.2 | |
IPO8 | NM_001190995.2 | c.2486C>G | p.Pro829Arg | missense_variant | Exon 21 of 21 | NP_001177924.1 | ||
IPO8 | XM_017018691.3 | c.3050C>G | p.Pro1017Arg | missense_variant | Exon 25 of 25 | XP_016874180.1 | ||
IPO8 | XM_017018692.2 | c.2915C>G | p.Pro972Arg | missense_variant | Exon 24 of 24 | XP_016874181.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IPO8 | ENST00000256079.9 | c.3101C>G | p.Pro1034Arg | missense_variant | Exon 25 of 25 | 1 | NM_006390.4 | ENSP00000256079.4 | ||
IPO8 | ENST00000544829.5 | c.2486C>G | p.Pro829Arg | missense_variant | Exon 21 of 21 | 2 | ENSP00000444520.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152142Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 250986Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135664
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460376Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726656
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152142Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74318
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.3101C>G (p.P1034R) alteration is located in exon 25 (coding exon 25) of the IPO8 gene. This alteration results from a C to G substitution at nucleotide position 3101, causing the proline (P) at amino acid position 1034 to be replaced by an arginine (R). 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