rs34480284
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The XM_047416559.1(LOC124900868):c.*778+2025del variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00069 ( 0 hom., cov: 0)
Consequence
LOC124900868
XM_047416559.1 intron
XM_047416559.1 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0460
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC124900868 | XM_047416559.1 | c.*778+2025del | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes AF: 0.000693 AC: 105AN: 151548Hom.: 0 Cov.: 0
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GnomAD4 genome AF: 0.000692 AC: 105AN: 151666Hom.: 0 Cov.: 0 AF XY: 0.000621 AC XY: 46AN XY: 74090
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ClinVar
Not reported inComputational scores
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at