chr12-30634161-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006390.4(IPO8):c.2821G>A(p.Ala941Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,976 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006390.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IPO8 | NM_006390.4 | c.2821G>A | p.Ala941Thr | missense_variant | Exon 23 of 25 | ENST00000256079.9 | NP_006381.2 | |
IPO8 | NM_001190995.2 | c.2206G>A | p.Ala736Thr | missense_variant | Exon 19 of 21 | NP_001177924.1 | ||
IPO8 | XM_017018691.3 | c.2770G>A | p.Ala924Thr | missense_variant | Exon 23 of 25 | XP_016874180.1 | ||
IPO8 | XM_017018692.2 | c.2635G>A | p.Ala879Thr | missense_variant | Exon 22 of 24 | XP_016874181.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IPO8 | ENST00000256079.9 | c.2821G>A | p.Ala941Thr | missense_variant | Exon 23 of 25 | 1 | NM_006390.4 | ENSP00000256079.4 | ||
IPO8 | ENST00000544829.5 | c.2206G>A | p.Ala736Thr | missense_variant | Exon 19 of 21 | 2 | ENSP00000444520.1 | |||
IPO8 | ENST00000535598.1 | c.292G>A | p.Ala98Thr | missense_variant | Exon 2 of 3 | 3 | ENSP00000446232.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152140Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251306Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135826
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461718Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727162
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152258Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74450
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at