chr12-30630885-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006390.4(IPO8):c.3089T>A(p.Phe1030Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,613,626 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006390.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IPO8 | NM_006390.4 | c.3089T>A | p.Phe1030Tyr | missense_variant | Exon 25 of 25 | ENST00000256079.9 | NP_006381.2 | |
IPO8 | NM_001190995.2 | c.2474T>A | p.Phe825Tyr | missense_variant | Exon 21 of 21 | NP_001177924.1 | ||
IPO8 | XM_017018691.3 | c.3038T>A | p.Phe1013Tyr | missense_variant | Exon 25 of 25 | XP_016874180.1 | ||
IPO8 | XM_017018692.2 | c.2903T>A | p.Phe968Tyr | 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.3089T>A | p.Phe1030Tyr | missense_variant | Exon 25 of 25 | 1 | NM_006390.4 | ENSP00000256079.4 | ||
IPO8 | ENST00000544829.5 | c.2474T>A | p.Phe825Tyr | missense_variant | Exon 21 of 21 | 2 | ENSP00000444520.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251160Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135746
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461410Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 727022
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74378
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.3089T>A (p.F1030Y) alteration is located in exon 25 (coding exon 25) of the IPO8 gene. This alteration results from a T to A substitution at nucleotide position 3089, causing the phenylalanine (F) at amino acid position 1030 to be replaced by a tyrosine (Y). 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