chrX-41123666-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001039591.3(USP9X):āc.38A>Gā(p.Asn13Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000182 in 1,097,912 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001039591.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
USP9X | NM_001039591.3 | c.38A>G | p.Asn13Ser | missense_variant | 2/45 | ENST00000378308.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USP9X | ENST00000378308.7 | c.38A>G | p.Asn13Ser | missense_variant | 2/45 | 5 | NM_001039591.3 | P4 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome AF: 0.00000182 AC: 2AN: 1097912Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 363274
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
Intellectual disability, X-linked 99 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Dr. med. U. Finckh, Human Genetics, Eurofins MVZ | May 04, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.