rs375940495
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001350451.2(RBFOX3):c.271G>A(p.Asp91Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000546 in 1,520,236 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D91E) has been classified as Uncertain significance.
Frequency
Consequence
NM_001350451.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBFOX3 | NM_001350451.2 | c.271G>A | p.Asp91Asn | missense_variant | 6/15 | ENST00000693108.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBFOX3 | ENST00000693108.1 | c.271G>A | p.Asp91Asn | missense_variant | 6/15 | NM_001350451.2 |
Frequencies
GnomAD3 genomes ? AF: 0.000290 AC: 44AN: 151838Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000881 AC: 11AN: 124874Hom.: 0 AF XY: 0.0000747 AC XY: 5AN XY: 66968
GnomAD4 exome AF: 0.0000285 AC: 39AN: 1368280Hom.: 0 Cov.: 31 AF XY: 0.0000311 AC XY: 21AN XY: 674520
GnomAD4 genome ? AF: 0.000290 AC: 44AN: 151956Hom.: 0 Cov.: 33 AF XY: 0.000229 AC XY: 17AN XY: 74292
ClinVar
Submissions by phenotype
RBFOX3-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 18, 2022 | This variant is classified as likely 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
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 27, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at