rs113298071
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_018723.4(RBFOX1):c.137C>A(p.Pro46His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000567 in 1,614,146 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P46L) has been classified as Uncertain significance.
Frequency
Consequence
NM_018723.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBFOX1 | NM_018723.4 | c.137C>A | p.Pro46His | missense_variant | 5/16 | ENST00000550418.6 | |
RBFOX1 | NM_145893.3 | c.197C>A | p.Pro66His | missense_variant | 2/14 | ENST00000355637.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBFOX1 | ENST00000550418.6 | c.137C>A | p.Pro46His | missense_variant | 5/16 | 1 | NM_018723.4 | A1 | |
RBFOX1 | ENST00000355637.9 | c.197C>A | p.Pro66His | missense_variant | 2/14 | 1 | NM_145893.3 |
Frequencies
GnomAD3 genomes ? AF: 0.00313 AC: 476AN: 152170Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.000816 AC: 205AN: 251348Hom.: 0 AF XY: 0.000560 AC XY: 76AN XY: 135834
GnomAD4 exome AF: 0.000300 AC: 438AN: 1461858Hom.: 5 Cov.: 31 AF XY: 0.000243 AC XY: 177AN XY: 727234
GnomAD4 genome ? AF: 0.00314 AC: 478AN: 152288Hom.: 4 Cov.: 32 AF XY: 0.00308 AC XY: 229AN XY: 74462
ClinVar
Submissions by phenotype
Idiopathic generalized epilepsy Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at