chr22-35943494-C-A
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001349999.2(RBFOX2):c.187-4597G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 151,990 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001349999.2 intron
Scores
Clinical Significance
Conservation
Publications
- congenital heart defects, multiple typesInheritance: AD Classification: STRONG Submitted by: Ambry Genetics
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBFOX2 | NM_001349999.2 | c.187-4597G>T | intron_variant | Intron 1 of 13 | ENST00000695854.1 | NP_001336928.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBFOX2 | ENST00000695854.1 | c.187-4597G>T | intron_variant | Intron 1 of 13 | NM_001349999.2 | ENSP00000512219.1 | ||||
RBFOX2 | ENST00000438146.7 | c.187-4597G>T | intron_variant | Intron 1 of 13 | 1 | ENSP00000413035.2 | ||||
RBFOX2 | ENST00000695807.1 | n.-84-4597G>T | intron_variant | Intron 1 of 14 | ENSP00000512187.1 | |||||
RBFOX2 | ENST00000408983.2 | c.43-4597G>T | intron_variant | Intron 1 of 5 | 3 | ENSP00000386177.2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151990Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151990Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74252 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at