rs17242130
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000781317.1(ENSG00000287938):n.297+21536A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0795 in 151,512 control chromosomes in the GnomAD database, including 559 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
ENST00000781317.1 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000287938 | ENST00000781317.1 | n.297+21536A>C | intron_variant | Intron 3 of 3 | ||||||
ENSG00000287938 | ENST00000781318.1 | n.271+21536A>C | intron_variant | Intron 2 of 2 | ||||||
ENSG00000287938 | ENST00000781319.1 | n.152+5830A>C | intron_variant | Intron 1 of 4 |
Frequencies
GnomAD3 genomes AF: 0.0795 AC: 12036AN: 151410Hom.: 560 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.0795 AC: 12042AN: 151512Hom.: 559 Cov.: 31 AF XY: 0.0765 AC XY: 5658AN XY: 73988 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at