rs17223072
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000552856.1(ENSG00000258077):n.401+5029A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0912 in 152,160 control chromosomes in the GnomAD database, including 689 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
ENST00000552856.1 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105369844 | XR_007063374.1 | n.691+5029A>G | intron_variant | Intron 5 of 6 | ||||
LOC105369844 | XR_007063375.1 | n.1371+5029A>G | intron_variant | Intron 6 of 15 | ||||
LOC105369844 | XR_007063376.1 | n.2298+5029A>G | intron_variant | Intron 4 of 7 | ||||
LOC105369844 | XR_007063377.1 | n.2298+5029A>G | intron_variant | Intron 4 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000258077 | ENST00000552856.1 | n.401+5029A>G | intron_variant | Intron 3 of 4 | 3 | |||||
ENSG00000286259 | ENST00000651075.1 | n.323-1652T>C | intron_variant | Intron 4 of 5 | ||||||
ENSG00000258077 | ENST00000741371.1 | n.527+5029A>G | intron_variant | Intron 3 of 5 |
Frequencies
GnomAD3 genomes AF: 0.0912 AC: 13864AN: 152042Hom.: 688 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.0912 AC: 13872AN: 152160Hom.: 689 Cov.: 31 AF XY: 0.0914 AC XY: 6797AN XY: 74382 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at