rs145861898
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_018723.4(RBFOX1):āc.282C>Gā(p.Asp94Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. D94D) has been classified as Likely benign.
Frequency
Consequence
NM_018723.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBFOX1 | NM_018723.4 | c.282C>G | p.Asp94Glu | missense_variant | 6/16 | ENST00000550418.6 | |
RBFOX1 | NM_145893.3 | c.342C>G | p.Asp114Glu | missense_variant | 3/14 | ENST00000355637.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBFOX1 | ENST00000550418.6 | c.282C>G | p.Asp94Glu | missense_variant | 6/16 | 1 | NM_018723.4 | A1 | |
RBFOX1 | ENST00000355637.9 | c.342C>G | p.Asp114Glu | missense_variant | 3/14 | 1 | NM_145893.3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250866Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135542
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461778Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727192
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at