rs284744
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000824642.1(ENSG00000307231):n.137-16517T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.327 in 152,206 control chromosomes in the GnomAD database, including 10,462 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
ENST00000824642.1 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000307231 | ENST00000824642.1 | n.137-16517T>G | intron_variant | Intron 1 of 2 |
Frequencies
GnomAD3 genomes AF: 0.326 AC: 49640AN: 152088Hom.: 10412 Cov.: 33 show subpopulations
GnomAD4 genome AF: 0.327 AC: 49753AN: 152206Hom.: 10462 Cov.: 33 AF XY: 0.328 AC XY: 24389AN XY: 74430 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at