rs1553342109
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 6P and 1B. PM2PM5PP2PP5BP4
The NM_001190274.2(FBXO11):c.414A>T(p.Arg138Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R138G) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001190274.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBXO11 | NM_001190274.2 | c.414A>T | p.Arg138Ser | missense_variant | 3/23 | ENST00000403359.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBXO11 | ENST00000403359.8 | c.414A>T | p.Arg138Ser | missense_variant | 3/23 | 1 | NM_001190274.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 17, 2018 | - - |
Neurodevelopmental disorder Pathogenic:1
Likely pathogenic, no assertion criteria provided | research | University of Washington Center for Mendelian Genomics, University of Washington | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at