rs878853105
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PP2BP4
The NM_001039591.3(USP9X):c.640C>G(p.Pro214Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,208,609 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 4 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001039591.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
USP9X | NM_001039591.3 | c.640C>G | p.Pro214Ala | missense_variant | 6/45 | ENST00000378308.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USP9X | ENST00000378308.7 | c.640C>G | p.Pro214Ala | missense_variant | 6/45 | 5 | NM_001039591.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000892 AC: 1AN: 112101Hom.: 0 Cov.: 23 AF XY: 0.0000292 AC XY: 1AN XY: 34251
GnomAD4 exome AF: 0.0000128 AC: 14AN: 1096508Hom.: 0 Cov.: 29 AF XY: 0.00000829 AC XY: 3AN XY: 361910
GnomAD4 genome ? AF: 0.00000892 AC: 1AN: 112101Hom.: 0 Cov.: 23 AF XY: 0.0000292 AC XY: 1AN XY: 34251
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Apr 12, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at