rs1120038
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000661853.1(ENSG00000287704):n.46-94491A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.311 in 151,850 control chromosomes in the GnomAD database, including 7,562 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
ENST00000661853.1 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 |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000287704 | ENST00000661853.1 | n.46-94491A>G | intron_variant | Intron 1 of 1 | ||||||
ENSG00000287704 | ENST00000686120.1 | n.57-12483A>G | intron_variant | Intron 1 of 2 | ||||||
ENSG00000287704 | ENST00000736459.1 | n.47-12483A>G | intron_variant | Intron 1 of 3 | ||||||
ENSG00000287704 | ENST00000736460.1 | n.39-12483A>G | intron_variant | Intron 1 of 4 |
Frequencies
GnomAD3 genomes AF: 0.312 AC: 47276AN: 151732Hom.: 7558 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.311 AC: 47297AN: 151850Hom.: 7562 Cov.: 31 AF XY: 0.309 AC XY: 22925AN XY: 74208 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at