chr12-30634160-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBS1_Supporting
The NM_006390.4(IPO8):c.2822C>T(p.Ala941Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000845 in 1,613,838 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 (★). Synonymous variant affecting the same amino acid position (i.e. A941A) has been classified as Likely benign.
Frequency
Consequence
NM_006390.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IPO8 | NM_006390.4 | c.2822C>T | p.Ala941Val | missense_variant | 23/25 | ENST00000256079.9 | |
IPO8 | NM_001190995.2 | c.2207C>T | p.Ala736Val | missense_variant | 19/21 | ||
IPO8 | XM_017018691.3 | c.2771C>T | p.Ala924Val | missense_variant | 23/25 | ||
IPO8 | XM_017018692.2 | c.2636C>T | p.Ala879Val | missense_variant | 22/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IPO8 | ENST00000256079.9 | c.2822C>T | p.Ala941Val | missense_variant | 23/25 | 1 | NM_006390.4 | P1 | |
IPO8 | ENST00000544829.5 | c.2207C>T | p.Ala736Val | missense_variant | 19/21 | 2 | |||
IPO8 | ENST00000535598.1 | c.296C>T | p.Ala99Val | missense_variant | 2/3 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000598 AC: 91AN: 152124Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000362 AC: 91AN: 251274Hom.: 0 AF XY: 0.000405 AC XY: 55AN XY: 135812
GnomAD4 exome AF: 0.000870 AC: 1272AN: 1461714Hom.: 0 Cov.: 31 AF XY: 0.000843 AC XY: 613AN XY: 727148
GnomAD4 genome ? AF: 0.000598 AC: 91AN: 152124Hom.: 0 Cov.: 33 AF XY: 0.000605 AC XY: 45AN XY: 74322
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 10, 2021 | The c.2822C>T (p.A941V) alteration is located in exon 23 (coding exon 23) of the IPO8 gene. This alteration results from a C to T substitution at nucleotide position 2822, causing the alanine (A) at amino acid position 941 to be replaced by a valine (V). 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