rs375171072
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_001350451.2(RBFOX3):c.552G>T(p.Gly184=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000547 in 1,551,092 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. G184G) has been classified as Likely benign.
Frequency
Consequence
NM_001350451.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBFOX3 | NM_001350451.2 | c.552G>T | p.Gly184= | synonymous_variant | 9/15 | ENST00000693108.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBFOX3 | ENST00000693108.1 | c.552G>T | p.Gly184= | synonymous_variant | 9/15 | NM_001350451.2 |
Frequencies
GnomAD3 genomes AF: 0.000591 AC: 90AN: 152164Hom.: 3 Cov.: 33
GnomAD3 exomes AF: 0.00136 AC: 214AN: 156844Hom.: 3 AF XY: 0.00113 AC XY: 94AN XY: 83080
GnomAD4 exome AF: 0.000542 AC: 758AN: 1398928Hom.: 9 Cov.: 32 AF XY: 0.000530 AC XY: 366AN XY: 689964
GnomAD4 genome AF: 0.000591 AC: 90AN: 152164Hom.: 3 Cov.: 33 AF XY: 0.000484 AC XY: 36AN XY: 74344
ClinVar
Submissions by phenotype
Idiopathic generalized epilepsy Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Aug 03, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at