rs79080598
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001350451.2(RBFOX3):c.998+9G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000981 in 1,550,510 control chromosomes in the GnomAD database, including 15 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001350451.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBFOX3 | NM_001350451.2 | c.998+9G>T | intron_variant | Intron 13 of 14 | ENST00000693108.1 | NP_001337380.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBFOX3 | ENST00000693108.1 | c.998+9G>T | intron_variant | Intron 13 of 14 | NM_001350451.2 | ENSP00000510395.1 |
Frequencies
GnomAD3 genomes AF: 0.00556 AC: 847AN: 152222Hom.: 7 Cov.: 32
GnomAD3 exomes AF: 0.00106 AC: 162AN: 153128Hom.: 0 AF XY: 0.000727 AC XY: 59AN XY: 81182
GnomAD4 exome AF: 0.000471 AC: 659AN: 1398170Hom.: 6 Cov.: 30 AF XY: 0.000389 AC XY: 268AN XY: 689546
GnomAD4 genome AF: 0.00566 AC: 862AN: 152340Hom.: 9 Cov.: 32 AF XY: 0.00596 AC XY: 444AN XY: 74504
ClinVar
Submissions by phenotype
RBFOX3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Idiopathic generalized epilepsy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at