rs17169429
Variant summary
Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The ENST00000467490.5(ENSG00000293402):n.106-15A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0105 in 1,367,592 control chromosomes in the GnomAD database, including 290 homozygotes. 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
ENST00000467490.5 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000293402 | ENST00000467490.5 | n.106-15A>G | intron_variant | Intron 2 of 6 | 1 | |||||
FBXL21P | ENST00000297158.11 | n.277A>G | non_coding_transcript_exon_variant | Exon 2 of 5 | 6 | |||||
ENSG00000293402 | ENST00000475169.1 | n.560A>G | non_coding_transcript_exon_variant | Exon 4 of 4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0301 AC: 4577AN: 152122Hom.: 162 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0123 AC: 3054AN: 249140 AF XY: 0.0106 show subpopulations
GnomAD4 exome AF: 0.00804 AC: 9768AN: 1215352Hom.: 127 Cov.: 31 AF XY: 0.00759 AC XY: 4574AN XY: 602312 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0302 AC: 4592AN: 152240Hom.: 163 Cov.: 32 AF XY: 0.0295 AC XY: 2193AN XY: 74426 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at